Expanding the phenotype of thrombocytopenia absent radius syndrome with hypospadias
Author:
Publisher
Elsevier BV
Subject
Applied Microbiology and Biotechnology,General Medicine,Biotechnology,Bioengineering
Reference19 articles.
1. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome;Albers;Nat. Genet.,2012
2. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project;Ceyhan-Birsoy;Am. J. Hum. Genet.,2019
3. Identification and functional analysis of novel dual oxidase 2 (DUOX2) mutations in children with congenital or subclinical hypothyroidism;De Marco;J. Clin. Endocrinol. Metab.,2011
4. Romiplostim (Nplate®) and Oprelvekin (Neumega®) Correct Thrombocytopenia in TAR Syndrome (Thrombocytopenia with Absent Radii);Gallastegui;Blood,2017
5. Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias;Guttmacher;Am. J. Med. Genet.,1993
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles;International Journal of Molecular Sciences;2022-08-25
2. Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters;Molecular Genetics & Genomic Medicine;2021-03-16
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