Results 221 to 230 of about 783,564 (331)

Natural History of NAA15‐Related Neurodevelopmental Disorder Through Adolescence

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The NatA N‐terminal acetyltransferase complex is composed of the NAA10 catalytic subunit and the auxiliary subunits NAA15 and HYPK. While those with variants in the enzymatic subunit develop Ogden Syndrome, individuals with variants in the NAA15 coding region develop NAA15‐related neurodevelopmental syndrome, which presents with a wide array ...
Rikhil Makwana   +5 more
wiley   +1 more source

Exploring Action and Responsibility through Literature

open access: yesWOW Stories, 2008
Jennifer Griffith
doaj  

MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis   +12 more
wiley   +1 more source

Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown   +6 more
wiley   +1 more source

Home - About - Disclaimer - Privacy