Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability

American Journal of Medical Genetics, Part A

Volumn 167, Issue 6, 2015, Pages 1323-1329

  Mattos, Eduardo P ^a,b   da Silva, André Anjos ^a,b   Magalhães, José Antônio A ^a,b   Leite, Júlio César L ^a   Leistner Segal, Sandra ^a   Gus Kessler, Rejane ^a   Perez, Juliano Adams ^a   Vedolin, Leonardo M ^a,b   Torreblanca Zanca, Albertina ^c,d   Lapunzina, Pablo ^c,e   Ruiz Perez, Victor L ^d,e   Sanseverino, Maria Teresa V ^a  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^c HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^d CSIC   (Spain)

^e CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

Magnetic resonance imaging; Neu Laxova syndrome; Phosphoglycerate dehydrogenase; Prenatal diagnosis; Serine metabolism

Indexed keywords

PHOSPHOGLYCERATE DEHYDROGENASE; STOP CODON;

AGYRIA; ARTHROGRYPOSIS; ARTICLE; AUTOPSY; BONE MALFORMATION; CASE REPORT; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CORPUS CALLOSUM AGENESIS; CRANIOFACIAL MALFORMATION; DISEASE SEVERITY; EDEMA; ENZYME INACTIVATION; FEMALE; FETUS; FETUS ECHOGRAPHY; GENE AMPLIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; ICHTHYOSIS; INTRAUTERINE GROWTH RETARDATION; LIMB REDUCTION DEFECT; MICROCEPHALY; MICROGNATHIA; NEU LAXOVA SYNDROME; NEWBORN; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PES EQUINOVARUS; PHGDH GENE; POLYMERASE CHAIN REACTION; PREMATURE LABOR; PRIORITY JOURNAL; SANGER SEQUENCING; SCOLIOSIS; SEQUENCE ANALYSIS; SKIN EDEMA; SPONTANEOUS PLACENTAL DELIVERY; STILLBIRTH; STOP CODON; WHOLE BODY IMAGING; ABNORMALITIES, MULTIPLE; BRAIN DISEASES; CARBOHYDRATE METABOLISM, INBORN ERRORS; CONSANGUINITY; DEFICIENCY; DNA SEQUENCE; FETAL GROWTH RETARDATION; GENE EXPRESSION; GENETIC VARIATION; GENETICS; GENOTYPE; HOMOZYGOTE; LETHAL GENE; LIMB DEFORMITIES, CONGENITAL; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PHENOTYPE; PSYCHOMOTOR DISORDERS; SEIZURES; SEVERITY OF ILLNESS INDEX;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; BRAIN DISEASES; CARBOHYDRATE METABOLISM, INBORN ERRORS; CODON, NONSENSE; CONSANGUINITY; FEMALE; FETAL GROWTH RETARDATION; FETUS; GENE EXPRESSION; GENES, LETHAL; GENETIC VARIATION; GENOTYPE; HOMOZYGOTE; HUMANS; ICHTHYOSIS; INFANT, NEWBORN; LIMB DEFORMITIES, CONGENITAL; MALE; MICROCEPHALY; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; PHOSPHOGLYCERATE DEHYDROGENASE; PSYCHOMOTOR DISORDERS; SEIZURES; SEQUENCE ANALYSIS, DNA; SEVERITY OF ILLNESS INDEX; ULTRASONOGRAPHY, PRENATAL;

EID: 84929964892     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36930     Document Type: Article

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