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American Journal of Medical Genetics

Volumn 75, Issue 3, 1998, Pages 273-276

Mental retardation, "coarse" face, and hyperbreathing: Confirmation of the Pitt-Hopkins syndrome

(3) Van Balkom, Inge D C a Quartel, Sytze b Hennekam, Raoul C M a,c

a UNIVERSITY OF AMSTERDAM (Netherlands)

b Institute for the Mentally Retarded Groot Schuylenburg (Netherlands)

c ACADEMIC MEDICAL CENTER (Netherlands)

Author keywords

Coarse face; Hyperbreathing; Joubert syndrome; Mental retardation; Pitt Hopkins syndrome; Rett syndrome

Indexed keywords

ADULT; ARTICLE; BREATHING PATTERN; CASE REPORT; CHROMOSOME 15; CLINICAL FEATURE; COARSE FACE; FACE MALFORMATION; FEMALE; HUMAN; JOUBERT SYNDROME; MENTAL DEFICIENCY; PIT HOPKINS SYNDROME; PRIORITY JOURNAL; RETT SYNDROME; TACHYPNEA;

ADULT; CRANIOFACIAL ABNORMALITIES; FEMALE; HUMANS; HYPERVENTILATION; MENTAL RETARDATION; MUSCLE HYPOTONIA; RETT SYNDROME; SYNDROME;

GENETTA;

EID: 0032559244 PISSN: 15524825 EISSN: 15524833 Source Type: Journal
DOI: 10.1002/(sici)1096-8628(19980123)75:3<273::aid-ajmg9>3.0.co;2-r Document Type: Article

Times cited : (24)

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