Fanconi Anemia and Ataxia Telangiectasia in Siblings who Inherited Unique Combinations of Novel FANCA and ATM Null Mutations
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001336
Abstract: A unique consanguineous family with 2 genomic instability disorders, Fanconi anemia and ataxia telangiectasia, revealed exceptional combinations of null mutations in the FANCA and ATM genes. Two siblings with Fanconi anemia had novel homozygous consecutive… read more here.
Keywords: null mutations; ataxia telangiectasia; fanca atm; fanconi anemia ... See more keywords
The First Case Report of X-Linked Sideroblastic Anemia With Ataxia of Chinese Origin and Literature Review
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2021.692459
Abstract: X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare X-liked inherited disease, which was linked to the ABCB7 gene mutations. So far, five families have been reported worldwide. We present the first Chinese family of… read more here.
Keywords: sideroblastic anemia; anemia; linked sideroblastic; anemia ataxia ... See more keywords