Fetal akinesia deformation sequence due to a congenital disorder of glycosylation

American Journal of Medical Genetics, Part A

Volumn 167, Issue 10, 2015, Pages 2411-2417

  Ganetzky, Rebecca ^a   Izumi, Kosuke ^a   Edmondson, Andrew ^b   Muraresku, Colleen Clarke ^a   Zackai, Elaine ^a,b   Deardorff, Matthew ^a,b   Ganesh, Jaya ^c  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c Department of Anesthesiology   (United States)

Author keywords

Arthrogryposis; Congenital disorder of glycosylation type IJ; Dolichyl phosphate alpha N acetylglucosaminyltransferase

Indexed keywords

AKINESIA; AMINO ACID SUBSTITUTION; ANTHROPOMETRY; ARACHNODACTYLY; ARTHROGRYPOSIS; ARTICLE; ARTIFICIAL VENTILATION; AUTOPSY; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CATARACT; CAUSE OF DEATH; CLUBFOOT; CONGENITAL DISORDER OF GLYCOSYLATION; CONSANGUINITY; DIFFERENTIAL DIAGNOSIS; DPAGT1 GENE; EXON; EXTUBATION; FEMALE; FETUS MOVEMENT; GENE; HEAD CIRCUMFERENCE; HIP DYSPLASIA; HOMOZYGOSITY; HUMAN; HYPOPLASIA; INFERIOR CEREBELLAR VERMIS HYPOPLASIA; INTRAUTERINE GROWTH RETARDATION; MICROARRAY ANALYSIS; MISSENSE MUTATION; MUSCLE HYPOTONIA; NEUROIMAGING; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PREGNANCY COMPLICATION; PRIORITY JOURNAL; RESPIRATION DEPRESSION; RESPIRATORY FAILURE; SINGLE NUCLEOTIDE POLYMORPHISM; ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; CLEFT PALATE; COMPLICATION; CONGENITAL DISORDERS OF GLYCOSYLATION; CONTRACTURE; GENE EXPRESSION; GENETICS; HYDROCEPHALUS; LIMB DEFORMITIES, CONGENITAL; MOLECULAR GENETICS; PATHOLOGY; SEQUENCE ALIGNMENT;

DOLICHYL-PHOSPHATE ALPHA-N-ACETYLGLUCOSAMINYLTRANSFERASE; N ACETYLGLUCOSAMINYLTRANSFERASE;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; ARTHROGRYPOSIS; CLEFT PALATE; CONGENITAL DISORDERS OF GLYCOSYLATION; CONTRACTURE; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENE EXPRESSION; HUMANS; HYDROCEPHALUS; INFANT, NEWBORN; LIMB DEFORMITIES, CONGENITAL; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; N-ACETYLGLUCOSAMINYLTRANSFERASES; SEQUENCE ALIGNMENT;

EID: 84941258828     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37184     Document Type: Article

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