Case of Myhre syndrome with autism and peculiar skin histological findings

American Journal of Medical Genetics

Volumn 103, Issue 2, 2001, Pages 163-165

  Titomanlio, L ^a   Marzano, M G ^a   Rossi, E ^b   D'Armiento, M ^a   De Brasi, D ^a   Vega, G R ^a   Andreucci, M V ^a   Orsini, A V M ^a   Santoro, L ^a   Sebastio, G ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

Author keywords

Autism; Muscular build; Myhre syndrome; Short stature

Indexed keywords

ADOLESCENT; ARTICLE; AUTISM; BLEPHAROPHIMOSIS; CASE REPORT; CONGENITAL MALFORMATION; DISEASE ASSOCIATION; HISTOPATHOLOGY; HUMAN; JOINT MOBILITY; MALE; MENTAL DEFICIENCY; MUSCLE DISEASE; MYHRE RUVALCABA SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE; SKIN DISEASE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; AUTISTIC DISORDER; CRANIOFACIAL ABNORMALITIES; CYTOGENETIC ANALYSIS; GROWTH DISORDERS; HUMANS; MALE; MENTAL RETARDATION; MUSCULAR DISEASES; SKIN ABNORMALITIES; SYNDROME;

EID: 0035479340     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1517     Document Type: Article

References (6)

1. Myhre-GOMBO syndrome: Possible lumping of two "old" new syndromes
2. The Myhre syndrome: Report of two cases
3. A new growth deficiency syndrome
4. A complete set of human telomeric probes and their clinical application
5. A new syndrome of short stature, joint limitation and muscle hypertrophy
6. GOMBO syndrome: Another "pseudorecessive" disorder due to a cryptic translocation