Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s41431-018-0121-7.pdf
Reference34 articles.
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2. Graul-Neumann LM, Deichsel A, Wille U, et al. Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe. Eur J Hum Genet. 2014;22:726–33.
3. Stange K, Désir J, Kakar N, et al. A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia. Orphanet J Rare Dis. 2015;10:1.
4. Chalmel F, Rolland AD. Linking transcriptomics and proteomics in spermatogenesis. Reproduction. 2015;150:R149–R157.
5. Dahl H-H, Brown R, Hutchison W, Maragos C, Brown G. A testis-specific form of the human pyruvate dehydrogenase E1α subunit is coded for by an intronless gene on chromosome 4. Genomics. 1990;8:225–32.
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