Hammal Khan
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View article: Novel KIAA0825 Variants Underlie Nonsyndromic Postaxial Polydactyly
Novel KIAA0825 Variants Underlie Nonsyndromic Postaxial Polydactyly Open
Background: Extra digits on the hands and/or feet are a frequent condition known as polydactyly. Twelve nonsyndromic polydactyly genes have been identified, including KIAA0825. Methods: Four consanguineous Pakistani families that segregate…
View article: Bi‐Allelic <i>DSG1</i> Splice‐Site Variant Identified in a Family With Non‐Syndromic Striate Palmoplantar Keratoderma
Bi‐Allelic <i>DSG1</i> Splice‐Site Variant Identified in a Family With Non‐Syndromic Striate Palmoplantar Keratoderma Open
Hereditary palmoplantar keratoderma (PPK) involves hyperkeratosis of the palmoplantar skin and belongs to the palmoplantar epidermal differentiation disorders (pEDDs). One causal gene is Desmoglein 1 ( DSG1 ), which encodes a protein cruci…
View article: Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families
Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families Open
Limb abnormalities are the second most frequent birth defects seen in infants, after congenital heart disease. Over the past 150 years, more than 50 classifications for limb malformations based on morphology and osseous anatomy have been p…
View article: Loss-of-function variant in the LRR domain of SLITRK2 implicated in a neurodevelopmental disorder
Loss-of-function variant in the LRR domain of SLITRK2 implicated in a neurodevelopmental disorder Open
Background: Neurodevelopmental disorders are characterized by different combinations of intellectual disability (ID), communication and social skills deficits, and delays in achieving motor or language milestones. SLITRK2 is a postsynaptic…
View article: Delineating the Disease Boundaries: Homozygous <i>CDC14A</i> Variants Underlying Nonsyndromic Hearing Loss and Hearing Impairment Infertile Male Syndrome
Delineating the Disease Boundaries: Homozygous <i>CDC14A</i> Variants Underlying Nonsyndromic Hearing Loss and Hearing Impairment Infertile Male Syndrome Open
Background: Hereditary hearing loss is a genetically heterogeneous neurosensory disorder that affects many people. Deafness and infertility can coexist in some cases, creating the hearing impairment infertile male syndrome. There are sever…
View article: Issue Information
Issue Information Open
The cleft region (upper right red region) is segmented as the difference between the preoperative image (yellow) and the superimposed image of the mirrored preoperative image (red). Failed osteogenesis region (lower right red region) is se…
View article: Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene
Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene Open
Background: Glycosylphosphatidylinositol (GPI) is a glycolipid containing phosphatidylinositol related to the protein surfaces by covalent attachment. Inherited GPI deficiencies have various phenotypic chrematistics, which range from intel…
View article: Genetic advances in skeletal disorders: an overview
Genetic advances in skeletal disorders: an overview Open
Genetic skeletal disorders (GSDs) are a large group of rare heterogeneous disorders characterized by abnormal development, remodeling, and growth of the human skeleton's cartilage and bones. GSDs have a high spectrum of phenotypes tha…
View article: A splice site variant in<i>TCTN3</i>underlies an atypical form of orofaciodigital syndrome IV
A splice site variant in<i>TCTN3</i>underlies an atypical form of orofaciodigital syndrome IV Open
Orofaciodigital syndrome (OFD) is clinically heterogeneous and is characterized by abnormalities in the oral cavity, facial features, digits, and central nervous system. At least 18 subtypes of the condition have been described in the lite…