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

Context: 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. Objective: The objective of the study was to identify the m...

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Veröffentlicht in:	The journal of clinical endocrinology and metabolism 2007-10, Vol.92 (10), p.4000-4008
Hauptverfasser:	Abdulhadi-Atwan, Maha, Jean, Amy, Chung, Wendy K., Meir, Karen, Ben Neriah, Ziva, Stratigopoulos, George, Oberfield, Sharon E., Fennoy, Ilene, Hirsch, Harry J., Bhangoo, Amrit, Ten, Svetlana, Lerer, Israela, Zangen, David H.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adrenal Hyperplasia, Congenital - genetics Adrenal Hyperplasia, Congenital - pathology Adrenals. Adrenal axis. Renin-angiotensin system (diseases) Arabs - genetics Biological and medical sciences Child Child, Preschool Chromosomes, Human, Pair 8 Endocrinopathies Feeding. Feeding behavior Female Founder Effect Fundamental and applied biological sciences. Psychology Genotype Humans Infant Infant, Newborn Male Medical sciences Non tumoral diseases. Target tissue resistance. Benign neoplasms Pedigree Phenotype Phosphoproteins - genetics Testis - pathology Vertebrates: anatomy and physiology, studies on body, several organs or systems Vertebrates: endocrinology
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