Apparent autosomal recessive inheritance of the Treacher Collins syndrome
- PMID: 4376426
Apparent autosomal recessive inheritance of the Treacher Collins syndrome
Similar articles
-
Mandibulofacial dysostosis: report on two Brazilian families suggesting autosomal recessive inheritance.Am J Med Genet. 1993 Jul 1;46(6):659-64. doi: 10.1002/ajmg.1320460611. Am J Med Genet. 1993. PMID: 8362908
-
[Different forms of deafness in Treacher - Collins-Syndrome, shown on a family over three generations (author's transl)].Laryngol Rhinol Otol (Stuttg). 1975 May;54(5):385-8. Laryngol Rhinol Otol (Stuttg). 1975. PMID: 127100 German.
-
[7 cases of mandibulofacial dysostosis. Franceschetti-Zwahlen syndrome, Treacher-Collins syndrome. Case description and therapeutic possibilities].HNO. 1966 Sep;14(9):274-8. HNO. 1966. PMID: 5996501 German. No abstract available.
-
Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.Am J Med Genet A. 2019 Jul;179(7):1390-1394. doi: 10.1002/ajmg.a.61147. Epub 2019 Apr 8. Am J Med Genet A. 2019. PMID: 30957429 Review.
-
Treacher Collins syndrome (mandibulofacial dysostosis).Clin Plast Surg. 1994 Oct;21(4):613-23. Clin Plast Surg. 1994. PMID: 7813160 Review.
Cited by
-
Nager acrofacial dysostosis.J Med Genet. 1993 Sep;30(9):779-82. doi: 10.1136/jmg.30.9.779. J Med Genet. 1993. PMID: 8411075 Free PMC article. Review. No abstract available.
-
Autosomal recessive inheritance of Nager acrofacial dysostosis.J Med Genet. 1988 Apr;25(4):230-2. doi: 10.1136/jmg.25.4.230. J Med Genet. 1988. PMID: 3367347 Free PMC article.
-
Autosomal dominant asymmetrical radial dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia).J Med Genet. 1982 Apr;19(2):110-5. doi: 10.1136/jmg.19.2.110. J Med Genet. 1982. PMID: 7077621 Free PMC article.