Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection

Neurology

Volumn 86, Issue 21, 2016, Pages 2016-2024

  Aran, Adi ^a,b   Rosenfeld, Nuphar ^a,b   Jaron, Ranit ^a   Renbaum, Paul ^a   Zuckerman, Shachar ^a   Fridman, Hila ^a,b   Zeligson, Sharon ^a   Segel, Reeval ^a,b   Kohn, Yoav ^b,c   Kamal, Lara ^d   Kanaan, Moien ^d   Segev, Yoram ^a   Mazaki, Eyal ^a   Rabinowitz, Ron ^a,b   Shen, Ori ^a   Lee, Ming ^e   Walsh, Tom ^e   King, Mary Claire ^e   Gulsuner, Suleyman ^e   Levy Lahad, Ephrat ^a,b  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

^b HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^c Jerusalem Mental Health Center Ezrath Nashim   (Israel)

^d BETHLEHEM UNIVERSITY   (Israel)

^e UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

JUNCTIONAL ADHESION MOLECULE C; PROTOCADHERIN 12; UNCLASSIFIED DRUG; VASCULAR ENDOTHELIAL CADHERIN; CADHERIN; PCDH12 PROTEIN, HUMAN;

ARTICLE; BRAIN CALCIFICATION; CLINICAL ARTICLE; CONGENITAL INFECTION; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; CYTOMEGALOVIRUS INFECTION; DEVELOPMENTAL DISORDER; EXOME; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE MAPPING; GENE SEQUENCE; GENOTYPE; HOMOZYGOSITY; HUMAN; INFANTILE SPASM; INTRAUTERINE GROWTH RETARDATION; INTRAUTERINE INFECTION; LOSS OF FUNCTION MUTATION; MALE; MICROCEPHALY; NEUROIMAGING; NEWBORN; PALESTINIAN; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; BRAIN; CONSANGUINITY; DIAGNOSTIC IMAGING; DIFFERENTIAL DIAGNOSIS; DNA MUTATIONAL ANALYSIS; GENETICS; GROWTH, DEVELOPMENT AND AGING; INFANT; MUTATION; PEDIGREE; PREGNANCY; PREGNANCY COMPLICATION; PRENATAL DIAGNOSIS; SYNDROME; UTERUS DISEASE;

BRAIN; CADHERINS; CONSANGUINITY; DEVELOPMENTAL DISABILITIES; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FEMALE; FETAL GROWTH RETARDATION; HUMANS; INFANT; INFANT, NEWBORN; MICROCEPHALY; MUTATION; PEDIGREE; PHENOTYPE; PREGNANCY; PREGNANCY COMPLICATIONS, INFECTIOUS; PRENATAL DIAGNOSIS; SYNDROME; UTERINE DISEASES;

EID: 84969920928     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000002704     Document Type: Article

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