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Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders
- Source :
- Scopus, RUO: Repositorio Institucional de la Universidad de Oviedo, Universidad de Oviedo (UNIOVI), Repisalud, Instituto de Salud Carlos III (ISCIII), RUO. Repositorio Institucional de la Universidad de Oviedo, instname, Abdelfattah, F, Kariminejad, A, Kahlert, AK, Morrison, P J, Gumus, E, Mathews, K D, Darbro, B W, Amor, D J, Walsh, M, Sznajer, Y, Weiß, L, Weidensee, S, Chitayat, D, Shannon, P, Bermejo-Sánchez, E, Riaño-Galán, I, Hayes, I, Poke, G, Rooryck, C, Pennamen, P, Khung-Savatovsky, S, Toutain, A, Vuillaume, ML, Ghaderi-Sohi, S, Kariminejad, M H, Weinert, S, Sticht, H, Zenker, M & Schanze, D 2020, ' Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders ', Human Mutation, vol. 41, no. 9, pp. 1615-1628 . https://doi.org/10.1002/humu.24067
- Publication Year :
- 2020
-
Abstract
- Financial assistance was received in support of the study by grants from the German Federal Ministry of Education and Research (BMBF) (GeNeRARe, FKZ: 01GM1519D) to M. Z. and from the Institute of Health Carlos III: Convenio ISCIII‐ASEREMAC, and Fundación 1000 sobre Defectos Congénitos, of Spain to E. B.‐S. and I. R. G.<br />Abdelfattah, F., Kariminejad, A., Kahlert, A.-K., Morrison, P.J., Gumus, E., Mathews, K.D., Darbro, B.W., Amor, D.J., Walsh, M., Sznajer, Y., Weiß, L., Weidensee, S., Chitayat, D., Shannon, P., Bermejo-Sánchez, E., Riaño-Galán, I., Hayes, I., Poke, G., Rooryck, C., Pennamen, P., Khung-Savatovsky, S., Toutain, A., Vuillaume, M.-L., Ghaderi-Sohi, S., Kariminejad, M.H., Weinert, S., Sticht, H., Zenker, M., Schanze, D.
- Subjects :
- Male
Neu–Laxova syndrome
Mutant
Autosomal recessive
Limb Deformities, Congenital
Biology
medicine.disease_cause
Serine
03 medical and health sciences
Fetus
Genotype
Genetics
medicine
Neu-Laxova syndrome
Humans
Abnormalities, Multiple
Phosphoglycerate dehydrogenase
Gene
PHGDH
Genetics (clinical)
Genetic Association Studies
Phosphoglycerate Dehydrogenase
Transaminases
030304 developmental biology
0303 health sciences
Mutation
Brain Diseases
Fetal Growth Retardation
Genotype–phenotype correlation
030305 genetics & heredity
Infant, Newborn
L-Serine biosynthesis
Ichthyosis
medicine.disease
Phenotype
PSAT1
Microcephaly
Female
Subjects
Details
- ISSN :
- 10981004
- Volume :
- 41
- Issue :
- 9
- Database :
- OpenAIRE
- Journal :
- Human mutationREFERENCES
- Accession number :
- edsair.doi.dedup.....3f22ec2fbb76abc39815ae8a6717c53d