Possible case of Pitt-Hopkins syndrome in sibs

American Journal of Medical Genetics

Volumn 103, Issue 2, 2001, Pages 157-159

  Orrico, Alfredo ^a   Galli, Lucia ^a   Zappella, Michele ^a   Lam, Ching Wan ^b   Bonifacio, Stefania ^c   Torricelli, Francesca ^c   Hayek, Giuseppe ^a  

^a UNIVERSITY HOSPITAL OF SIENA   (Italy)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^c CAREGGI UNIVERSITY HOSPITAL   (Italy)

Author keywords

Autosomal recessive; Dysmorphisms; Episodic hyperpnea; Mental retardation; Pitt Hopkins syndrome; Short stature

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DISEASE SEVERITY; FEMALE; HALLUX; HUMAN; HYPERTRICHOSIS; HYPERVENTILATION; MENTAL DEFICIENCY; MENTAL RETARDATION MALFORMATION SYNDROME; MULTIPLE MALFORMATION SYNDROME; PITT HOPKINS SYNDROME; PRIORITY JOURNAL; RECURRENT DISEASE; RESPIRATORY TRACT DISEASE; SEIZURE; SHORT STATURE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CRANIOFACIAL ABNORMALITIES; FAMILY HEALTH; FEMALE; GROWTH DISORDERS; HUMANS; HYPERVENTILATION; MALE; MENTAL RETARDATION; SYNDROME;

EID: 0035479197     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1523     Document Type: Article

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