Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

Journal of Medical Genetics

Volumn 40, Issue 6, 2003, Pages 441-446

  Philip, N ^a   Chabrol, B ^a   Lossi, A M ^a   Cardoso, C ^a   Guerrini, R ^b   Dobyns, W B ^c   Raybaud, C ^a   Villard, L ^a  

^a TIMONE HOSPITAL   (France)

^b DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^c UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; OLIGOPHRENIN 1; PROTEIN; UNCLASSIFIED DRUG;

AMNIOCENTESIS; ARTICLE; AUTOMUTILATION; BIRTH WEIGHT; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; CEREBELLUM HYPOPLASIA; CHROMOSOME INACTIVATION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DEVELOPMENTAL DISORDER; DISEASE CARRIER; FAMILIAL DISEASE; FEMALE; FETUS KARYOTYPING; FRAGILE X SYNDROME; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; HEAD CIRCUMFERENCE; HUMAN; INFANT; INTELLIGENCE QUOTIENT; MACROCEPHALY; MALE; MATERNAL AGE; MENTAL DEFICIENCY; MOTHER; NEUROLOGIC EXAMINATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SIBLING; X CHROMOSOME LINKAGE;

EID: 0037531657     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.40.6.441     Document Type: Article

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