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Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation.

Endocrine - 1 Jun 2015

Izumi Yoko, Musha Ikuma, Suzuki Erina, Iso Manami, Jinno Tomoko, Horikawa Reiko, Amemiya Shin, Ogata Tsutomu, Fukami Maki, Ohtake Akira

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25273316
DOI: 10.1007/s12020-014-0434-4

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Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation.PMID 25273316Read ↗

Reversal of congenital hypogonadotropic hypogonadism in a man with Kallmann syndrome due to SOX10 mutation.Semantic proximity Read ↗

Diagnosis and genetic analysis of a case of Waardenburg syndrome type 2 with hypogonadotropic hypogonadism caused by SOX10 gene deletion.Semantic proximity Read ↗

Novel variants in the SOX11 gene: additional evidence for the involvement of SOX11 in hypogonadotropic hypogonadismSemantic proximity Read ↗

Identification and functional analysis of a novel mutation in the SOX10 gene associated with Waardenburg syndrome type IVSemantic proximity Read ↗

Waardenburg syndrome type IIE in a Japanese patient caused by a novel non-frame-shift duplication mutation in the SOX10 gene.Semantic proximity Read ↗

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Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.Semantic proximity Read ↗

A de novo SOX11 mutation causing hypogonadotropic hypogonadism: a case report and literature review.Semantic proximity Read ↗

Kallmann Syndrome Due to Heterozygous Mutation in SOX10 Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature.Semantic proximity Read ↗

Novel variants in the SOX11 gene: clinical description of seven new patients.Semantic proximity Read ↗

A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation.Semantic proximity Read ↗

Waardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene.Semantic proximity Read ↗

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