Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 4, 2012, Pages 856-860

  Capalbo, D ^a   Melis, D ^a   De Martino, L ^a   Palamaro, L ^a   Riccomagno, S ^b   Bona, G ^b   Cordeddu, V ^c   Pignata, C ^a   Salerno, M ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^c ISTITUTO SUPERIORE DI SANITÀ   (Italy)

Author keywords

Chronic tics; GH insensitivity; Noonan like syndrome with loose anagen hair; SHOC2

Indexed keywords

CARBAMAZEPINE; RECOMBINANT GROWTH HORMONE; SOMATOMEDIN C;

ARTICLE; BRAIN MALFORMATION; CASE REPORT; CHILD; CONVULSION; CORPUS CALLOSUM AGENESIS; ELECTROENCEPHALOGRAPHY; ENDOCRINE DISEASE; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; GROWTH DISORDER; GROWTH HORMONE INSENSITIVITY; HORMONE BLOOD LEVEL; HUMAN; HYDRAMNIOS; LANGUAGE DISABILITY; MULTIPLE MALFORMATION SYNDROME; NOONAN LIKE SYNDROME WITH LOOSE ANAGEN HAIR; NUCLEAR MAGNETIC RESONANCE IMAGING; PREMATURITY; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SCHOOL CHILD; SEIZURE; SHOC2 GENE; SHORT STATURE; TIC;

CHILD; FEMALE; HUMANS; INSULIN-LIKE GROWTH FACTOR I; LARON SYNDROME; LOOSE ANAGEN HAIR SYNDROME; NOONAN SYNDROME; STAT5 TRANSCRIPTION FACTOR; TICS;

EID: 84858999417     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35234     Document Type: Article

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