Associated Papers
Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report.
Li G et al.
Bmc Medical Genomics, 2021
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.
Bourchany A et al.
European Journal of Medical Genetics, 2017
Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.
Barraza-García J et al.
American Journal of Medical Genetics. Part A, 2016
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