SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS.

CONCLUSIONS: To our best knowledge, these novel mutations in the NBAS gene have not been reported. Normal bone age with growth hormone deficiency in this patient is different from the patients with SOPH syndrome that have been previously reported. These findings enrich the mutant spectrum of the NBAS gene and add our understanding of SOPH syndrome. PMID: 30592236 [PubMed - as supplied by publisher]
Source: Fetal and Pediatric Pathology - Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research