Phenotypic features associated with mutations in steroidogenic acute regulatory protein

Journal of Clinical Endocrinology and Metabolism

Volumn 90, Issue 11, 2005, Pages 6303-6309

  Bhangoo, Amrit ^a   Gu, Wen Xia ^b   Pavlakis, Steven ^a   Anhalt, Henry ^c   Heier, Linda ^d   Ten, Svetlana ^a   Jameson, J Larry ^b  

^a MAIMONIDES MEDICAL CENTER   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

^c SAINT BARNABAS MEDICAL CENTER   (United States)

^d WEILL CORNELL MEDICAL COLLEGE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DINUCLEOTIDE; STEROIDOGENIC ACUTE REGULATORY PROTEIN;

ADRENAL HYPERPLASIA; ADRENAL INSUFFICIENCY; AMINO ACID SEQUENCE; ATTENTION DEFICIT DISORDER; BRAIN INJURY; CASE REPORT; CHIARI FROMMEL SYNDROME; CHILD; CHROMOSOME ANALYSIS; CONFERENCE PAPER; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; INTELLIGENCE QUOTIENT; MISSENSE MUTATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SUBARACHNOID SPACE; WHITE MATTER;

ADRENAL HYPERPLASIA, CONGENITAL; BRAIN; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MUTATION; PHENOTYPE; PHOSPHOPROTEINS;

EID: 27744514132     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2005-0434     Document Type: Conference Paper

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