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Results 1 - 10 of 18 for Brachydactyly type D
  1. TRPV4 gene 
    ... CHANNEL, SUBFAMILY V, MEMBER 4; TRPV4 DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL; FDAB PULMONARY ... P, Kerr B, McGillivray G, McKinlay Gardner RJ, Patricelli MG, Sillence D, Thompson E, Zacharin M, Zankl A, Lamande SR, ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  2. 2q37 deletion syndrome 
    ... 3 interstitial deletion with isolated skeletal abnormalities including ... MJ, Leheup B, Taine L, Lacombe D, Delrue MA, Toutain A, Paubel A, Mugneret F, ...
    https://medlineplus.gov/genetics/condition/2q37-deletion-syndrome - Genetics
  3. HDAC4 gene 
    ... 3 interstitial deletion with isolated skeletal abnormalities including ... MJ, Leheup B, Taine L, Lacombe D, Delrue MA, Toutain A, Paubel A, Mugneret F, ...
    https://medlineplus.gov/genetics/gene/hdac4 - Genetics
  4. NOG gene 
    ... like those seen in multiple synostoses syndrome 1.Brachydactyly type B2 is characterized by short fingers and toes, ... SYM1A MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1 NOGGIN; NOG BRACHYDACTYLY, TYPE B2; BDB2 NCBI Gene ClinVar Brown DJ, Kim ...
    https://medlineplus.gov/genetics/gene/nog - Genetics
  5. Chromosome 2 
    ... 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. Robinow syndrome 
    ... Jeffery S. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat ...
    https://medlineplus.gov/genetics/condition/robinow-syndrome - Genetics
  7. COL2A1 gene 
    ... Le Merrer M, Leroy JG, Coucke PJ, Sillence D, Mortier GR. Czech dysplasia metatarsal type: another type II collagen disorder. Eur J Hum ... Bateman JF, Randle S, Cowie S, du Sart D, McGrath S, Edwards M, Savarirayan R. ... is a distinct type II collagen phenotype. Arthritis Rheum. 2010 May;62( ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  8. MIR17HG gene 
    ... Campos-Xavier AB, Hull D, Martinet D, Ballhausen D, Bonafe L. Post-axial polydactyly type A2, overgrowth and autistic traits associated with a ...
    https://medlineplus.gov/genetics/gene/mir17hg - Genetics
  9. Spondyloperipheral dysplasia 
    ... G, Gatinois V, Fabre A, Dumont B, Genevieve D, Touitou I. Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies. Hum Mutat. 2016 Jan;37(1): ...
    https://medlineplus.gov/.../condition/spondyloperipheral-dysplasia - Genetics
  10. Oral-facial-digital syndrome 
    ... AM, Huet F, Cusin V, Donzel A, Devys D, Teyssier JR, Faivre L. Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. J ...
    https://medlineplus.gov/.../condition/oral-facial-digital-syndrome - Genetics
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