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Article

SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings.

American journal of medical genetics. Part A - 1 Mar 2016

Preiksaitiene Egle, Benušienė Eglė, Matulevičienė Aušra, Grigalionienė Kristina, Utkus Algirdas, Kučinskas Vaidutis

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26602066
DOI: 10.1002/ajmg.a.37466

Genes

SOX9

Variants

Provenance

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Related research

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SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings.PMID 26602066Read ↗

Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.Semantic proximity Read ↗

Acampomelic campomelic syndrome.Semantic proximity Read ↗

Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.Semantic proximity Read ↗

Familial campomelic dysplasia due to maternal germinal mosaicism.Semantic proximity Read ↗

Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene.Semantic proximity Read ↗

Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father.Semantic proximity Read ↗

Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene.Semantic proximity Read ↗

Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX 9Semantic proximity Read ↗

Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?Semantic proximity Read ↗

Understanding the role of SOX9 in acquired diseases: lessons from developmentSemantic proximity Read ↗

Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature.Semantic proximity Read ↗

A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9.Semantic proximity Read ↗

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