[Characteristics of people with the STXBP1 syndrome in Spain: Implications for diagnosis].

CONCLUSIONS: There is a clear under-diagnosis of STXBP1 syndrome in Spain. Besides the inherent diversity of the disorder, with the increase in the number diagnoses the variability of the phenotype is even wider. The description of the alarm signs is necessary in order to identify those individuals with less prototypical manifestations of the disorder. PMID: 31151759 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/31151759?dopt=Abstract

Source: Anales de Pediatria - May 27, 2019 Category: Pediatrics Authors: Murillo E Tags: An Pediatr (Barc) Source Type: research