Kadri Karaer
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View article: A Rare Case: NGLY1 Deficiency and Diaphragmatic Eventration
A Rare Case: NGLY1 Deficiency and Diaphragmatic Eventration Open
Cite this article as: Pekal AB, Şevik R, Yüzbaşı BK, Güngör O, Karaer K. A rare case: NGLY1 deficiency and diaphragmatic eventration. Turk Arch Pediatr.Published online November 26, 2025. doi:10.5152/ TurkArchPediatr.2025.25234
View article: Coffin-Lowry syndrome: two novel variants in RPS6KA3 gene
Coffin-Lowry syndrome: two novel variants in RPS6KA3 gene Open
We present two novel mutations of RPS6KA3 in two Turkish boys with CLS. As reported in previous publications, growth and developmental delay and phenotypic appearance were typical in our cases.
View article: Noonan syndrome: molecular and clinical findings in individuals with PTPN11 pathogenic variants
Noonan syndrome: molecular and clinical findings in individuals with PTPN11 pathogenic variants Open
Purpose: RASopathies encompass a spectrum of disorders resulting from pathogenic variants in genes associated with the Ras/mitogen-activated protein kinase (RAS/MAPK) pathway, critical for cellular functions like proliferation, differentia…
View article: Insights into<i>KIF11</i>pathogenesis in Microcephaly-Lymphedema-Chorioretinopathy syndrome: a lymphatic perspective
Insights into<i>KIF11</i>pathogenesis in Microcephaly-Lymphedema-Chorioretinopathy syndrome: a lymphatic perspective Open
Pathogenic variants in kinesin KIF11 underlie microcephaly-lymphedema-chorioretinopathy (MLC) syndrome. Although well known for regulating spindle dynamics ensuring successful cell division, the association of KIF11 (encoding EG5) with dev…
View article: Evaluation of the frequency of MEFV gene variants in patients with a pre-diagnosis of Familial Mediterranean Fever (FMF) in southeast Turkey.
Evaluation of the frequency of MEFV gene variants in patients with a pre-diagnosis of Familial Mediterranean Fever (FMF) in southeast Turkey. Open
Purpose: Familial Mediterranean Fever (FMF) is a hereditary auto inflammatory disease (MIM#249100). The most common symptoms are high fever, abdominal pain and arthralgia. FMF is the result of variations in the MEditerraneanFeVer (MEFV) ge…
View article: İnfertil erkek hastalarda karyotip analizi ve Y kromozom mikrodelesyon analiz sonuçları
İnfertil erkek hastalarda karyotip analizi ve Y kromozom mikrodelesyon analiz sonuçları Open
Purpose: Infertility is a problem seen in 15% of couples. Genetic causes are responsible for the etiology of 30% of those diagnosed with male infertility due to oligozoospermia and azoospermia. In this retrospective study, it was aimed to …
View article: A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31
A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31 Open
Background: Chromosomal microarray is considered as the first-line diagnostic genetic test in all individuals with intellectual disability (ID) and attention-deficit disorders. In recent years, the use of chromosomal microarrays routinely …
View article: Septal myectomy and implantable cardiac defibrillator implantation in infant with hypertrophic cardiomyopathy and newly identified MYBPC3 genetic mutation
Septal myectomy and implantable cardiac defibrillator implantation in infant with hypertrophic cardiomyopathy and newly identified MYBPC3 genetic mutation Open
Hypertrophic cardiomyopathy has the highest incidence rate among genetically inherited cardiac diseases. It develops as a result of mutations in genes in related to the sarcomere protein in cardiac muscle. Generally, this results in asymme…
View article: Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes Open
View article: Unusual hair findings in a child with cardiofaciocutaneous syndrome
Unusual hair findings in a child with cardiofaciocutaneous syndrome Open
View article: A Rare Syndrome and a Rare Association: Dandy–Walker Malformation and Cockayne Syndrome in a Child
A Rare Syndrome and a Rare Association: Dandy–Walker Malformation and Cockayne Syndrome in a Child Open
Cockayne syndrome is a rare autosomal recessive, neurodegenerative disorder characterized by a broad spectrum of clinical symptoms. Herein, we will describe a patient diagnosed with Cockayne syndrome by genetic testing who was also determi…
View article: Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency
Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency Open
We report a four-year-old girl who presented with intrauterine growth retardation, mild dysmorphism, cleft palate, microcephaly, developmental delay, epilepsy and recurrent lower respiratory tract infection and diagnosed short-chain acyl-C…
View article: Structural, Functional, and Clinical Characterization of a Novel<i>PTPN11</i>Mutation Cluster Underlying Noonan Syndrome
Structural, Functional, and Clinical Characterization of a Novel<i>PTPN11</i>Mutation Cluster Underlying Noonan Syndrome Open
Germline mutations in PTPN11, the gene encoding the Src-homology 2 (SH2) domain-containing protein tyrosine phosphatase (SHP2), cause Noonan syndrome (NS), a relatively common, clinically variable, multisystem disorder. Here, we report on …
View article: Microcephaly-Lymphedema-Chorioretinal Dysplasia Syndrome: Two Case Reports
Microcephaly-Lymphedema-Chorioretinal Dysplasia Syndrome: Two Case Reports Open
Microcephaly-lymphedema-chorioretinal dysplasia is a rare syndrome in which the component of chorioretinopathy may develop later. We describe two patients with microcephaly-lymphedema-chorioretinal dysplasia syndrome who had characteristic…
View article: Two newborn babies with generalized arterial calcification of infancy, two new mutations
Two newborn babies with generalized arterial calcification of infancy, two new mutations Open
Idiopathic generalized arterial calcification of infancy-1 (GACI-1) is a rare and potentially lethal disease characterized by diffuse calcification of large and medium-sized arteries such as aorta, renal, pulmonary, cerebral and mesenteric…
View article: A novel mutation in a case of pseudohypoparathyroidism type Ia
A novel mutation in a case of pseudohypoparathyroidism type Ia Open
Pseudohypoparathyroidism (PHP) type Ia is characterized by multiple hormone resistance; primarily parathyroid hormone (PTH) resistance and Albright's hereditary osteodystrophy (AHO) which involves skeletal and developmental defects. The AH…
View article: Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous <i>EARS2</i> Mutation
Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous <i>EARS2</i> Mutation Open
Childhood leukoencephalopathies are a broad class of diseases, which are extremely rare. The treatment and classification of these disorders are both challenging. Nearly half of children presenting with a leukoencephalopathy remain without…
View article: Seroepidemiological survey of bovine tick-borne infections in theBlack Sea Region of Turkey
Seroepidemiological survey of bovine tick-borne infections in theBlack Sea Region of Turkey Open
Babesiosis, theileriosis, and anaplasmosis are the tick-borne diseases of cattle in most of the tropical areas and Turkey. A total of 270 cattle were randomly selected from 27 villages and 77 farms in the Black Sea Region of Turkey for the…
View article: Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Osteopetrosis of Infancy
Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Osteopetrosis of Infancy Open
View article: Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease Open
View article: A Novel Mutation of SCL26A4 gene in Turkish Family with Pendred Syndrome
A Novel Mutation of SCL26A4 gene in Turkish Family with Pendred Syndrome Open
Aim: This study aimed to investigate the molecular testing of congenital hearing loss by using next generation sequencing technology. Pendred syndrome (PS) is described by severe bilateral sensorineural hearing loss with goiter. The mutati…