The first case of antenatal presentation in COG8-congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype

American Journal of Medical Genetics, Part A

Volumn 179, Issue 3, 2019, Pages 480-485

  Arora, Veronica ^a   Puri, Ratna Dua ^a   Bhai, Pratibha ^a   Sharma, Nidhish ^a   Bijarnia–Mahay, Sunita ^a   Dimri, Nandita ^a   Baijal, Ashok ^a   Saxena, Renu ^a   Verma, Ishwar ^a  

^a SIR GANGA RAM HOSPITAL   (India)

Author keywords

antenatal presentation; arthrogryposis multiplex congenita; COG8 CDG; Dandy Walker malformation; increased NT; mutational hotspot

Indexed keywords

CONSERVED OLIGOMERIC GOLGI 8 SUBUNIT; GENOMIC DNA; GOLGI MATRIX; UNCLASSIFIED DRUG; COG8 PROTEIN, HUMAN; VESICULAR TRANSPORT ADAPTOR PROTEIN;

APGAR SCORE; ARTHROGRYPOSIS; ARTICLE; ARTIFICIAL VENTILATION; BRAIN VENTRICLE DILATATION; CASE REPORT; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; CORPUS CALLOSUM AGENESIS; DANDY WALKER SYNDROME; DNA EXTRACTION; EARLY DIAGNOSIS; FACE DYSMORPHIA; FAMILY HISTORY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GESTATIONAL AGE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; INTRAUTERINE GROWTH RETARDATION; INTUBATION; LABOR INDUCTION; MALE; MUTATIONAL ANALYSIS; NEWBORN; NUCHAL TRANSLUCENCY MEASUREMENT; OXYGEN SATURATION; PHENOTYPIC VARIATION; PHYSICAL EXAMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SANGER SEQUENCING; SPLICING DEFECT; WHOLE EXOME SEQUENCING; DNA SEQUENCE; EXON; FETUS ECHOGRAPHY; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; INTRON; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; RADIOGRAPHY; RNA SPLICE SITE;

ADAPTOR PROTEINS, VESICULAR TRANSPORT; BASE SEQUENCE; CONGENITAL DISORDERS OF GLYCOSYLATION; EXONS; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT, NEWBORN; INTRONS; MALE; MUTATION; PHENOTYPE; RADIOGRAPHY; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA; ULTRASONOGRAPHY, PRENATAL;

EID: 85060784316     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.61030     Document Type: Article

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