Germline mutation in DOK7 associated with fetal akinesia deformation sequence

Journal of Medical Genetics

Volumn 46, Issue 5, 2009, Pages 338-340

  Vogt, J ^a,b   Morgan, N V ^a   Marton, T ^b   Maxwell, S ^c   Harrison, B J ^a   Beeson, D ^c   Maher, E R ^a,b  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^c JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINERGIC RECEPTOR; RAPSYN;

AKINESIA; ARTICLE; CHILD; CLINICAL ARTICLE; DISEASE ASSOCIATION; DOK7 GENE; FAMILY; FETAL AKINESIA DEFORMATION SEQUENCE SYNDROME; FETUS DISEASE; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; NEUROMUSCULAR SYNAPSE; NEUROTRANSMISSION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; WEBBED NECK;

ABNORMALITIES, MULTIPLE; ALTERNATIVE SPLICING; BASE SEQUENCE; CHILD; CONSANGUINITY; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; FEMALE; GERM-LINE MUTATION; HUMANS; INDIA; MALE; MUSCLE PROTEINS; RNA SPLICE SITES; SYNDROME;

EID: 66249127236     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2008.065425     Document Type: Article

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