Ontology highlight
ABSTRACT:
SUBMITTER: Handley MT
PROVIDER: S-EPMC6428344 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Handley Mark T MT Reddy Kaalak K Wills Jimi J Rosser Elisabeth E Kamath Archith A Halachev Mihail M Falkous Gavin G Williams Denise D Cox Phillip P Meynert Alison A Raymond Eleanor S ES Morrison Harris H Brown Stephen S Allan Emma E Aligianis Irene I Jackson Andrew P AP Ramsahoye Bernard H BH von Kriegsheim Alex A Taylor Robert W RW Finch Andrew J AJ FitzPatrick David R DR
PLoS genetics 20190311 3
Typical Martsolf syndrome is characterized by congenital cataracts, postnatal microcephaly, developmental delay, hypotonia, short stature and biallelic hypomorphic mutations in either RAB3GAP1 or RAB3GAP2. Genetic analysis of 85 unrelated "mutation negative" probands with Martsolf or Martsolf-like syndromes identified two individuals with different homozygous null mutations in ITPA, the gene encoding inosine triphosphate pyrophosphatase (ITPase). Both probands were from multiplex families with a ...[more]