Further evidence that a 100Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients

American Journal of Medical Genetics, Part A

Volumn 161, Issue 4, 2013, Pages 913-915

  Speevak, M D ^a   Zeesman, S ^b   Leonard, N ^c   Nowaczyk, M J ^d  

^a CREDIT VALLEY HOSPITAL   (Canada)

^b MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

^c UNIVERSITY OF ALBERTA   (Canada)

^d MCMASTER UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ARNOLD CHIARI MALFORMATION; CASE REPORT; CHILD; CHROMOSOME 1Q43Q44 DELETION; CHROMOSOME DELETION; CLINODACTYLY; DEVELOPMENTAL DISORDER; ECHOCARDIOGRAPHY; ELECTROENCEPHALOGRAM; FACE DYSMORPHIA; FAM36A GENE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; HNRNPU AS1 GENE; HNRNPU GENE; HUMAN; LETTER; MALE; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; TONIC CLONIC SEIZURE; ARTICLE; CHROMOSOME 1; CONGENITAL MALFORMATION; FACE; GENETIC ASSOCIATION; GENETICS;

CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; DEVELOPMENTAL DISABILITIES; FACE; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; PHENOTYPE; SEIZURES;

EID: 84875501449     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35828     Document Type: Letter

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