LHX4 Gene Alterations: Patient Report and Review of the Literature.

This report extends the range of phenotypes associated with LHX4 gene mutations. To the best of our knowledge, we are the first to report on congenital myopathy in an LHX4 gene mutation. Forthwith, we offer a comprehensive review of the patients published so far with their clinical and genetic characteristics. PMID: 27464418 [PubMed - in process]
Source: Pediatric Endocrinology Reviews - Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research