46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing | Zendy

Ralf Werner | Zendy; Hartmut Merz | Zendy; Wiebke Birnbaum | Zendy; Louise Marshall | Zendy; Tatjana Schröder | Zendy; Benedikt Reiz | Zendy; Jennifer M. Kavran | Zendy; Tobias Bäumer | Zendy; Philipp Capetian | Zendy; Olaf Hiort | Zendy

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46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing

Author(s) -

Ralf Werner,

Hartmut Merz,

Wiebke Birnbaum,

Louise Marshall,

Tatjana Schröder,

Benedikt Reiz,

Jennifer M. Kavran,

Tobias Bäumer,

Philipp Capetian,

Olaf Hiort

Publication year - 2015

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2015-1314

Subject(s) - biology , gonadal dysgenesis , exome sequencing , endocrinology , medicine , exome , gonad , leydig cell , sonic hedgehog , hedgehog , mutation , genetics , gene , hormone , luteinizing hormone

46,XY disorders of sex development (DSD) comprise a heterogeneous group of congenital conditions. Mutations in a variety of genes can affect gonadal development or androgen biosynthesis/action and thereby influence the development of the internal and external genital organs.

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