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Results 1 - 7 of 7 for Muenke syndrome
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  1. FGFR3 gene 
    ... the FGFR3 gene has been shown to cause Muenke syndrome, which is a condition that causes craniosynostosis and ... abnormalities, and developmental delays. The variant that causes Muenke syndrome substitutes the amino acid arginine for the amino ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  2. TWIST1 gene 
    ... by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. Eur J Hum Genet. 2006 Jan;14(1): ...
    https://medlineplus.gov/genetics/gene/twist1 - Genetics
  3. KRAS gene 
    ... Kotecha U, Hart RA, Martinez AF, Kruszka P, Muenke M. Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a ...
    https://medlineplus.gov/genetics/gene/kras - Genetics
  4. MID1 gene 
    ... Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, Ballabio A. Opitz G/BBB syndrome, a defect of midline development, is due to ...
    https://medlineplus.gov/genetics/gene/mid1 - Genetics
  5. RECQL4 gene 
    ... N, Chouery E, De Roy M, Delague V, Muenke M, Jabs EW, Cai J, Wang LL, Plon SE, Fourneau C, Kestila M, Gillerot Y, Megarbane A, Verloes A. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J ...
    https://medlineplus.gov/genetics/gene/recql4 - Genetics
  6. SPECC1L gene 
    ... Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH. Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. J Med Genet. 2015 Feb;52(2):104- ...
    https://medlineplus.gov/genetics/gene/specc1l - Genetics
  7. PTCH1 gene 
    ... Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M. Mutations in PATCHED-1, the receptor for ... DA, Stockton DW, Hudgins L. Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. ...
    https://medlineplus.gov/genetics/gene/ptch1 - Genetics