about
A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient.Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the LiteratureBroadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.
P50
description
investigador
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researcher
@en
name
Jimena Barraza-García
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type
label
Jimena Barraza-García
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prefLabel
Jimena Barraza-García
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P31
P496
0000-0002-1010-9873