Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia

Molecular Genetics and Metabolism Reports

Volumn 1, Issue 1, 2014, Pages 213-219

  Murali, Chaya ^a   Lu, James T ^a   Jain, Mahim ^a   Liu, David S ^a   Lachman, Ralph ^b   Gibbs, Richard A ^a   Lee, Brendan H ^a,c   Cohn, Daniel ^d   Campeau, Philippe M ^e  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF MONTREAL   (Canada)

Author keywords

ALG12; ALG12 CDG; CDG Ig; Congenital Disorder of Glycosylation; Severe skeletal dysplasia; Whole exome sequencing

Indexed keywords

APGAR SCORE; ARTICLE; BONE DYSPLASIA; BONE RADIOGRAPHY; CASE REPORT; CERVICAL SPINE; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G; DIFFERENTIAL DIAGNOSIS; EXOME; FEMALE; GENE SEQUENCE; GROWTH PLATE; HISPANIC; HISTOLOGY; HUMAN; HUMAN TISSUE; HYDRAMNIOS; INFANT; JOINT DISLOCATION; KNEE; LEG; MIDFACE HYPOPLASIA; NEWBORN PERIOD; NUCLEOTIDE SEQUENCE; OSSIFICATION; PES EQUINOVARUS; PHENOTYPE; PHYSICAL EXAMINATION; PUBIC BONE; SHORT STATURE; SKINFOLD; ARTIFICIAL VENTILATION; DISEASE SEVERITY; FRAMESHIFT MUTATION; GENE DELETION; MOLECULAR DIAGNOSIS; NEWBORN; RHIZOME; SCOLIOSIS;

EID: 84905190318     PISSN: None     EISSN: 22144269     Source Type: Journal    
DOI: 10.1016/j.ymgmr.2014.04.004     Document Type: Article

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