ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation

American Journal of Medical Genetics, Part A

Volumn 167, Issue 11, 2015, Pages 2748-2754

  Lepais, Laureline ^a   Cheillan, David ^a,b   Frachon, Sophie Collardeau ^a,b   Hays, Stéphane ^c   Matthijs, Gert ^d   Panagiotakaki, Eleni ^a   Abel, Carine ^a   Edery, Patrick ^a,b,e   Rossi, Massimiliano ^a,e  

^a HOSPICES CIVILS DE LYON   (France)

^b UNIVERSITÉ LYON 1   (France)

^c CROIX ROUSSE HOSPITAL   (France)

^d UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^e LYON NEUROSCIENCE RESEARCH CENTER   (France)

Author keywords

ALG3; CDG; Chondrodysplasia punctata; EEG; Glycosylation; Prenatal

Indexed keywords

ANTINUCLEAR ANTIBODY; ARGININE; GLYCINE; MANNOSYLTRANSFERASE; PROTEIN ALG3; UNCLASSIFIED DRUG; TRANSFERRIN;

ARTICLE; AUTOPSY; BIOCHEMICAL ANALYSIS; BONE DYSPLASIA; BONE RADIOGRAPHY; CASE REPORT; CATARACT; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CHONDRODYSPLASIA PUNCTATA; CLEFT PALATE; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; CORNEA OPACITY; CORPUS CALLOSUM AGENESIS; CYSTIC FIBROSIS; DEATH; DISEASE ASSOCIATION; EAR DYSPLASIA; ECHOCARDIOGRAPHY; ELECTROENCEPHALOGRAPHY; EYE EXAMINATION; FACE DYSMORPHIA; FEMALE; FETUS; FETUS DISEASE; GENETIC ANALYSIS; HEART FAILURE; HEART VENTRICLE HYPERTROPHY; HEPATOMEGALY; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERLACTATEMIA; HYPERTELORISM; HYPOGLYCEMIA; IMMUNOFLUORESCENCE TEST; INTESTINE MALROTATION; INTRAUTERINE GROWTH RETARDATION; JOINT CONTRACTURE; KIDNEY CALCIFICATION; LIVER BIOPSY; LIVER FIBROSIS; MALE; METABOLIC ACIDOSIS; MICROCEPHALY; MICROGNATHIA; MOLECULAR BIOLOGY; MUTATIONAL ANALYSIS; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHYSICAL EXAMINATION; PONS; PREGNANCY TERMINATION; PRENATAL PERIOD; PRIORITY JOURNAL; PROGNOSIS; PULMONARY HYPERTENSION; RARE DISEASE; SIBLING; SKELETON MALFORMATION; TOE MALFORMATION; ULTRASOUND; WESTERN BLOTTING; AMINO ACID SUBSTITUTION; BRAIN; CONGENITAL MALFORMATION; FATALITY; GENETICS; HOMOZYGOTE; METABOLISM; MUTATION; PREGNANCY; RADIOGRAPHY;

AMINO ACID SUBSTITUTION; BLOTTING, WESTERN; BRAIN; CONGENITAL DISORDERS OF GLYCOSYLATION; FATAL OUTCOME; FEMALE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; PREGNANCY; SIBLINGS; TRANSFERRIN;

EID: 84947035156     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37232     Document Type: Article

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