Mutation in MPDZ causes severe congenital hydrocephalus

Journal of Medical Genetics

Volumn 50, Issue 1, 2013, Pages 54-58

  Al Dosari, Mohammed S ^a,b   Al Owain, Mohammed ^a   Tulbah, Maha ^a   Kurdi, Wesam ^a   Adly, Nouran ^a   Al Hemidan, Amal ^a   Masoodi, Tariq A ^a   Albash, Buthainah ^a   Alkuraya, Fowzan S ^a,c,d  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING SAUD UNIVERSITY   (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

^d KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

MULTIPLE PDZ DOMAIN PROTEIN; PDZ PROTEIN; TIGHT JUNCTION PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CHROMOSOME 9P; CLINICAL ARTICLE; CONGENITAL HYDROCEPHALUS; DISEASE SEVERITY; FAMILIAL DISEASE; FEMALE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; LINKAGE ANALYSIS; MALE; PDZ DOMAIN; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; BASE SEQUENCE; BRAIN; CARRIER PROTEINS; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 9; CONSANGUINITY; FEMALE; FOUNDER EFFECT; GENES, RECESSIVE; HUMANS; HYDROCEPHALUS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PEDIGREE; YOUNG ADULT;

EID: 84872132803     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-101294     Document Type: Article

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