Role of a Founder c.201_202delCT Mutation and New Phenotypic Features of Congenital Lipoid Adrenal Hyperplasia in Palestinians | Zendy

Maha AbdulhadiAtwan | Zendy; Amy M. Jean | Zendy; Wendy K. Chung | Zendy; Karen Meir | Zendy; Ziva Ben Neriah | Zendy; George Stratigopoulos | Zendy; Sharon E. Oberfield | Zendy; Ilene Fennoy | Zendy; Harry J. Hirsch | Zendy; Amrit Bhangoo | Zendy; Svetlana Ten | Zendy; Israela Lerer | Zendy; David Zangen | Zendy

Open Access

Role of a Founder c.201_202delCT Mutation and New Phenotypic Features of Congenital Lipoid Adrenal Hyperplasia in Palestinians

Author(s) -

Maha AbdulhadiAtwan,

Amy M. Jean,

Wendy K. Chung,

Karen Meir,

Ziva Ben Neriah,

George Stratigopoulos,

Sharon E. Oberfield,

Ilene Fennoy,

Harry J. Hirsch,

Amrit Bhangoo,

Svetlana Ten,

Israela Lerer,

David Zangen

Publication year - 2007

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.2007-1306

Subject(s) - context (archaeology) , congenital adrenal hyperplasia , phenotype , mutation , founder effect , genetics , hyperplasia , medicine , biology , pathology , gene , haplotype , genotype , paleontology

Congenital lipoid adrenal hyperplasia (CLAH), caused by mutations in steroidogenic acute regulatory protein (StAR), is most frequent in Japanese and Palestinians. We report eight Palestinians from four unrelated families with CLAH.

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