Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial‐RNA‐import protein PNPase cause delayed myelination
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Genetics"
DOI: 10.1111/cge.13068
Abstract: Recent studies suggest that impaired transcription or mitochondrial translation of small RNAs can cause abnormal myelination. A polynucleotide phosphorylase (PNPase) encoded by PNPT1 facilitates the import of small RNAs into mitochondria. PNPT1 mutations have been… read more here.
Keywords: pnpase; delayed myelination; pnpt1; myelination ... See more keywords
G130(P) An unusual cause of delayed walking: a case presentation
Sign Up to like & getrecommendations! Published in 2018 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2018-rcpch.126
Abstract: We present a case of a 22-month-old girl who was found to have an underlying metabolic bone disease as a cause for delayed gross motor development. The patient was referred to a district general hospital… read more here.
Keywords: g130 unusual; parathyroid hormone; case; calcium ... See more keywords
Genetic analysis of failed male puberty using whole exome sequencing
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2022-0254
Abstract: Abstract Objectives Although at least 598 genes are involved in the development of the hypothalamo–pituitary–testicular (HPT) axis, mutations in only 75 genes have so far been shown to cause delayed puberty. Methods Six male patients… read more here.
Keywords: hpt axis; puberty; whole exome; group ... See more keywords