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Results 1 - 10 of 15 for Brachydactyly syndrome type B
  1. ROR2 gene 
    ... two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. Hum Mutat. 2003 Jul;22(1):1-11. ... Patton MA, Wilkie AO, Jeffery S. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat Genet. ...
    https://medlineplus.gov/genetics/gene/ror2 - Genetics
  2. Robinow syndrome 
    ... Patton MA, Wilkie AO, Jeffery S. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat Genet. 2000 Aug;25(4):419-22. doi: 10.1038/78107. Citation on PubMed Bacino CA. ROR2-Related Robinow Syndrome. 2005 Jul 28 [updated 2019 Sep 12]. In: ...
    https://medlineplus.gov/genetics/condition/robinow-syndrome - Genetics
  3. NOG gene 
    ... Wilkie AO, Mundlos S. A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic ...
    https://medlineplus.gov/genetics/gene/nog - Genetics
  4. 2q37 deletion syndrome 
    ... SH. Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J ...
    https://medlineplus.gov/genetics/condition/2q37-deletion-syndrome - Genetics
  5. Chromosome 2 
    ... SH. Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J ...
    https://medlineplus.gov/genetics/chromosome/2 - Genetics
  6. HDAC4 gene 
    ... SH. Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J ...
    https://medlineplus.gov/genetics/gene/hdac4 - Genetics
  7. Oral-facial-digital syndrome 
    ... a.32032. Citation on PubMed Macca M, Franco B. The molecular basis of oral-facial-digital syndrome, type 1. Am J Med Genet C Semin Med ... M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) ... type I syndrome: a study on a large collection of patients. ...
    https://medlineplus.gov/.../condition/oral-facial-digital-syndrome - Genetics
  8. Pfeiffer syndrome 
    ... the other digits. Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the digits (syndactyly).Pfeiffer syndrome is divided into three subtypes. Type 1, also known as classic Pfeiffer syndrome, has ...
    https://medlineplus.gov/genetics/condition/pfeiffer-syndrome - Genetics
  9. Spondyloperipheral dysplasia 
    ... Testing Registry: Spondyloperipheral dysplasia Spondyloperipheral dysplasia-short ulna syndrome ... K, Stoss H, Superti-Furga A, Spranger J, Winterpacht A. A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia. ...
    https://medlineplus.gov/.../condition/spondyloperipheral-dysplasia - Genetics
  10. GNAS gene 
    ... Citation on PubMed Elli FM, deSanctis L, Ceoloni B, Barbieri ... to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due ...
    https://medlineplus.gov/genetics/gene/gnas - Genetics
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