A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly

Clinical Genetics

Volumn 88, Issue 1, 2015, Pages E1-E4

  Srour, M ^a,b   Hamdan, F F ^b   Gan Or, Z ^c,d   Labuda, D ^b,e   Nassif, C ^b   Oskoui, M ^a   Gana Weisz, M ^f   Orr Urtreger, A ^f,g   Rouleau, G A ^c,d,h   Michaud, J L ^b,e  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

^b UNIVERSITY OF MONTREAL   (Canada)

^c MCGILL UNIVERSITY   (Canada)

^d MCGILL UNIVERSITY   (Canada)

^e UNIVERSITÉ DE MONTRÉAL   (Canada)

^f TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^g TEL AVIV UNIVERSITY   (Israel)

^h MCGILL UNIVERSITY   (Canada)

Author keywords

Ashkenazi Jewish; Exome sequencing; Intellectual disability; Microcephaly; Neutral amino acid; SLC1A4

Indexed keywords

GENOMIC DNA; PROTEIN; SLC1A4 PROTEIN; UNCLASSIFIED DRUG; AMINO ACID TRANSPORTER; SLC1A4 PROTEIN, HUMAN;

ANKLES CONTRACTURE; ARTICLE; ASHKENAZI JEW; CASE REPORT; CHILD; CONSANGUINEOUS MARRIAGE; CONTRACTURE; CORPUS CALLOSUM; DEMYELINATING DISEASE; DEVELOPMENTAL DISORDER; EXOME; FACE DYSMORPHIA; FEMALE; GENETIC LINKAGE; GENETIC VARIABILITY; GENOTYPE; HOMOZYGOSITY; HUMAN; HYPERSALIVATION; INTELLECTUAL IMPAIRMENT; MALE; MICROCEPHALY; MISSENSE MUTATION; MYELINATION DELAY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; REFLEX; SANGER SEQUENCING; SCHOOL CHILD; SEQUENCE ANALYSIS; SIBLING; SPASTICITY; TONIC CLONIC SEIZURE; WHITE MATTER LESION; AMINO ACID SEQUENCE; DNA MUTATIONAL ANALYSIS; EXON; GENE FREQUENCY; GENETICS; INFANT; JEW; MOLECULAR GENETICS; NEWBORN; PEDIGREE;

AMINO ACID SEQUENCE; AMINO ACID TRANSPORT SYSTEM ASC; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE FREQUENCY; HUMANS; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; JEWS; MALE; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; SIBLINGS;

EID: 84930418728     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12605     Document Type: Article

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