Clémence Jacquin
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View article: <i>COG6</i><scp>‐related</scp> prenatal phenotype (CDG2L): Clinico‐pathological report and review of the literature
<i>COG6</i><span>‐related</span> prenatal phenotype (CDG2L): Clinico‐pathological report and review of the literature Open
Background CDG2L (MIM#614576) is an autosomal recessive multisystemic disorder due to variants in COG6 gene. Postnatal phenotypes are now well described, while prenatal presentations remain poorly investigated. Only 8 of the 28 published p…
View article: Further phenotypical delineation of DLG3-related neurodevelopmental disorders
Further phenotypical delineation of DLG3-related neurodevelopmental disorders Open
SAP102, a member of the membrane-associated guanylate kinase proteins family, is a scaffolding protein encoded by the DLG3 gene whose hemizygous variants with loss-of-function effect are associated with X-linked Intellectual developmental …
View article: 3q29 duplications: A cohort of 46 patients and a literature review
3q29 duplications: A cohort of 46 patients and a literature review Open
Duplications of the 3q29 cytoband are rare chromosomal copy number variations (CNVs) (overlapping or recurrent ~1.6 Mb 3q29 duplications). They have been associated with highly variable neurodevelopmental disorders (NDDs) with various asso…
View article: 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients Open
Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chr…