Phenotypic heterogeneity in AAAS gene mutation

Acta Paediatrica, International Journal of Paediatrics

Volumn 93, Issue 9, 2004, Pages 1257-1259

  Barat, P ^a   Goizet, C ^a   Tullio Pelet, A ^b   Puel, O ^a   Labessan, C ^a   Barthelemy, A ^c  

^a HÔPITAL PELLEGRIN   (France)

^b INSERM   (France)

^c Centre Hospitalier Saint Cyr   (France)

Author keywords

Adrenal deficiency; Allgrove syndrome; Endocrinology; Genetic; Triple A syndrome

Indexed keywords

FLUDROCORTISONE; HYDROCORTISONE;

ADRENAL INSUFFICIENCY; ALLGROVE SYNDROME; ANAMNESIS; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; ESOPHAGUS ACHALASIA; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; HUMAN; LABORATORY TEST; MALE; MENTAL DEFICIENCY; NEUROLOGIC EXAMINATION; PHENOTYPE; PRIORITY JOURNAL;

ADRENAL INSUFFICIENCY; CHILD; ESOPHAGEAL ACHALASIA; FEMALE; GENETIC HETEROGENEITY; HUMANS; LACRIMAL APPARATUS DISEASES; MALE; MUTATION; NUCLEAR PORE COMPLEX PROTEINS; PHENOTYPE; PROTEINS; SYNDROME;

EID: 4143138657     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1080/08035250410027706     Document Type: Article

References (7)

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