‹ Knowledge base
Browse the corpus
Walk the evidence base by book and chapter — the raw source passages that ground Ask, Differential, and the rest.
1 passage
abstractpubmed· Abstract 2016· item PMID:27567651
Metatropic Dysplasia with a Novel Mutation in TRPV4. BACKGROUND: Metatropic dysplasia is a skeletal dysplasia characterized by rhizomelia, severe kyphoscoliosis and a coccygeal tail. CASE CHARACTERISTICS: A 12 day-old male neonate had facial dysmorphism, short limbs and coccygeal tail and showed radiological features of metatropic dysplasia. OBSERVATION: A novel heterozygous variant was observed in TRPV4 gene. MESSAGE: We report a novel mutation in an Indian neonate with metatropic dysplasia.