HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes | Zendy

Sasha Howard | Zendy; Roberto Oleari | Zendy; Ariel Poliandri | Zendy; Vasiliki Chantzara | Zendy; Alessandro Fantin | Zendy; Gerard RuizBabot | Zendy; Lou Metherell | Zendy; Claudia Cabrera | Zendy; Michael R. Barnes | Zendy; Karoliina Wehkalampi | Zendy; Leonardo Guasti | Zendy; Christiana Ruhrberg | Zendy; Anna Cariboni | Zendy; Leo Dunkel | Zendy

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HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes

Author(s) -

Sasha Howard,

Roberto Oleari,

Ariel Poliandri,

Vasiliki Chantzara,

Alessandro Fantin,

Gerard RuizBabot,

Lou Metherell,

Claudia Cabrera,

Michael R. Barnes,

Karoliina Wehkalampi,

Leonardo Guasti,

Christiana Ruhrberg,

Anna Cariboni,

Leo Dunkel

Publication year - 2018

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.2018-00646

Subject(s) - biology , phenotype , exome sequencing , genetics , mutation , context (archaeology) , gene , proband , heterozygote advantage , endocrinology , medicine , allele , paleontology

Self-limited delayed puberty (DP) segregates in an autosomal-dominant pattern, but the genetic basis is largely unknown. Although DP is sometimes seen in relatives of patients with hypogonadotropic hypogonadism (HH), mutations in genes known to cause HH that segregate with the trait of familial self-limited DP have not yet been identified.

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