Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder

European Journal of Medical Genetics

Volumn 58, Issue 3, 2015, Pages 148-153

  Gerard M ^a   Morin, G ^b   Bourillon, A ^c   Colson, C ^a   Mathieu, S ^d,e   Rabier, D ^f   Billette de Villemeur, T ^d,e   Ogier de Baulny, H ^c   Benoist, J F ^c  

^a CHU CÔTE DE NACRE   (France)

^b AMIENS UNIVERSITY HOSPITAL   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^e SORBONNE UNIVERSITÉ   (France)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Cleft lip and palate; HCFC1 gene; Hypospadias; Increased nuchal translucency; Multiple congenital malformations syndrome; X linked cobalamin deficiency

Indexed keywords

COBAMAMIDE; CREATININE; CYANOCOBALAMIN; GENOMIC DNA; HOMOCYSTINE; MECOBALAMIN; METHIONINE; CARRIER PROTEIN; HCFC1 PROTEIN, HUMAN; HOST CELL FACTOR C1; MMACHC PROTEIN, HUMAN;

AMBIGUOUS GENITALIA; AMNION CELL; APLASIA; ARTICLE; BONE GROWTH; CALCIFICATION; CASE REPORT; CHILD; CLEFT LIP; CLEFT PALATE; COGNITIVE DEFECT; CONGENITAL MALFORMATION; CORPUS CALLOSUM; CYANOCOBALAMIN DEFICIENCY; DISEASE SEVERITY; ECTOPIC TISSUE; ELECTROENCEPHALOGRAM; ELECTRORETINOGRAM; EPILEPTIC STATE; FACE DYSMORPHIA; FACIES; FAMILY STUDY; FEMUR; FETUS; FETUS ECHOGRAPHY; FETUS GROWTH; FETUS WEIGHT; FIBROBLAST; GENE; GENE MUTATION; GENETIC SCREENING; GESTATIONAL AGE; GROWTH RETARDATION; HAND EDEMA; HCFC1 GENE; HUMAN; HUMAN CELL; HYDRAMNIOS; HYPERTELORISM; HYPOPLASIA; HYPOSPADIAS; INFANT; INTRACTABLE EPILEPSY; KIDNEY DYSPLASIA; LOW BIRTH WEIGHT; MACROCYTIC ANEMIA; MALE; METHYLMALONIC ACIDURIA; MICROCEPHALY; MICROPENIS; MITOSIS; MUSCLE HYPOTONIA; MYELINATION; NEUROLOGIC EXAMINATION; NEWBORN; NUCHAL TRANSLUCENCY MEASUREMENT; NUCLEAR MAGNETIC RESONANCE IMAGING; ORBIT; POSTNATAL GROWTH; PREGNANCY TERMINATION; PRESCHOOL CHILD; RETINA DEGENERATION; SCROTUM; SECOND TRIMESTER PREGNANCY; SEIZURE; SHORT NOSE; SIBLING; VITAMIN METABOLISM; X LINKED MENTAL RETARDATION; ABNORMALITIES, MULTIPLE; ANALOGS AND DERIVATIVES; BIOSYNTHESIS; COMPARATIVE GENOMIC HYBRIDIZATION; GENETICS; KARYOTYPING; METABOLISM; MUTATION; VITAMIN B 12 DEFICIENCY;

ABNORMALITIES, MULTIPLE; CARRIER PROTEINS; CHILD, PRESCHOOL; CLEFT LIP; COBAMIDES; COMPARATIVE GENOMIC HYBRIDIZATION; GENETIC TESTING; HOST CELL FACTOR C1; HUMANS; KARYOTYPING; MALE; MUTATION; VITAMIN B 12; VITAMIN B 12 DEFICIENCY;

EID: 84924592214     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.12.015     Document Type: Article

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