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Quoted phrase not found in phrase index: "Anauxetic dysplasia 2"
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Further evidence of POP1 mutations as the cause of anauxetic dysplasia.
Elalaoui SC, Laarabi FZ, Mansouri M, Mrani NA, Nishimura G, Sefiani A. Elalaoui SC, et al. Am J Med Genet A. 2016 Sep;170(9):2462-5. doi: 10.1002/ajmg.a.37839. Epub 2016 Jul 6. Am J Med Genet A. 2016. PMID: 27380734
Anauxetic dysplasia (AAD, OMIM 607095) is a rare skeletal dysplasia inherited as an autosomal recessive trait, which is caused by mutations in RMRP and allelic to a more common disorder, cartilage hair hypoplasia (CHH). ...It may be rational to coin the POP1-associa …
Anauxetic dysplasia (AAD, OMIM 607095) is a rare skeletal dysplasia inherited as an autosomal recessive trait, which is caused …
Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report.
Park JH, Im M, Kim YJ, Jang JH, Lee SM, Kim MS, Cho SY. Park JH, et al. Medicine (Baltimore). 2024 May 24;103(21):e37247. doi: 10.1097/MD.0000000000037247. Medicine (Baltimore). 2024. PMID: 38787970 Free PMC article.
RATIONALE: Cartilage-hair hypoplasia (CHH, OMIM # 250250) is a rare autosomal recessive disorder, which includes cartilage-hair hypoplasia-anauxetic dysplasia (CHH-AD) spectrum disorders. CHH-AD is caused by homozygous or compound heterozygous mutations in the RNA c …
RATIONALE: Cartilage-hair hypoplasia (CHH, OMIM # 250250) is a rare autosomal recessive disorder, which includes cartilage-hair hypoplasia- …