Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome

Clinical Genetics

Volumn 77, Issue 3, 2010, Pages 298-301

  Palka, C ^a   Giuliani, R ^a   Brancati, F ^a,b   Mohn, A ^a   Di Muzio, A ^a   Calabrese, O ^c   Huebner, A ^d   De Grandis, D ^c   Chiarelli, F ^a   Ferlini, A ^c   Stuppia, L ^a,e  

^a UNIVERSITY OF CHIETI   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c UNIVERSITY OF FERRARA   (Italy)

^d DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^e CNR   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; ARTIFICIAL TEAR; GLUCOCORTICOID; HYDROCORTISONE; MINERALOCORTICOID;

ADOLESCENT; ADRENAL CORTEX INSUFFICIENCY; ADULT; ALLGROVE SYNDROME; CASE REPORT; CHILD; DENTAL CARIES; ESOPHAGOGRAPHY; ESOPHAGUS ACHALASIA; ESOPHAGUS DILATATION; FEEDING DISORDER; FEMALE; GAIT DISORDER; GASTROESOPHAGEAL REFLUX; GENE MUTATION; HUMAN; HYPERPIGMENTATION; ITALY; LACRIMATION DISORDER; LETTER; MALE; MUSCLE ATROPHY; MUSCLE WEAKNESS; ORTHOSTATIC HYPOTENSION; PERIODONTAL DISEASE; PHENOTYPE; PRIORITY JOURNAL; PUNCTATE KERATITIS; SCHIRMER TEST; VOMITING;

ABNORMALITIES, MULTIPLE; ESOPHAGEAL ACHALASIA; FEMALE; HUMANS; MALE; NERVE TISSUE PROTEINS; NUCLEAR PORE COMPLEX PROTEINS;

EID: 77950146771     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01348.x     Document Type: Letter

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