Brothers with germline PTEN mutations and persistent hypoglycemia, macrocephaly, developmental delay, short stature, and coagulopathy

Journal of Pediatric Endocrinology and Metabolism

Volumn 26, Issue 1-2, 2013, Pages 137-141

  Granados, Andrea ^a   Eng, Charis ^b   Diaz, Alejandro ^a  

^a MIAMI CHILDREN'S HOSPITAL   (United States)

^b LERNER RESEARCH INSTITUTE   (United States)

Author keywords

Growth hormone deficiency; Hypoglycemia; PTEN (phosphatase and tensin homologue deleted in chromosome 10) mutations

Indexed keywords

ACYLCARNITINE; AMINOCAPROIC ACID; AMMONIA; CARBOXYLIC ACID; DIAZOXIDE; GLUCAGON; GROWTH HORMONE; INSULIN; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; RISTOCETIN;

ARTICLE; BLOOD CLOTTING DISORDER; CASE REPORT; DEVELOPMENTAL DISORDER; DYSLIPIDEMIA; EPISTAXIS; GENE MUTATION; GROWTH HORMONE DEFICIENCY; HEMANGIOMA; HEMATURIA; HUMAN; HYPOCOAGULABILITY; HYPOGLYCEMIA; INFANT; LABORATORY TEST; LIPOMA; MACROCEPHALY; MALE; MISSENSE MUTATION; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHYSICAL EXAMINATION; RECTUM HEMORRHAGE; RESPIRATORY DISTRESS; RISK BENEFIT ANALYSIS; SEIZURE; SHORT STATURE; SIBLING; VON WILLEBRAND DISEASE;

BLOOD COAGULATION DISORDERS, INHERITED; BODY HEIGHT; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; DWARFISM; GERM-LINE MUTATION; GROWTH DISORDERS; HUMANS; HYPOGLYCEMIA; INFANT; MACROCEPHALY; MALE; PTEN PHOSPHOHYDROLASE; SIBLINGS; VON WILLEBRAND DISEASES;

EID: 84878340135     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/jpem-2012-0227     Document Type: Article

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