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Case Reports
. 2018 Mar;60(3):304-306.
doi: 10.1111/ped.13473. Epub 2018 Feb 13.

Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III

Asmat Ullah  1 , Muhammad Umair  1 , Shabir Hussain  1 , Abid Jan  1   2 , Wasim Ahmad  1
Affiliations
Case Reports

Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III

Asmat Ullah et al. Pediatr Int. 2018 Mar.
No abstract available

Keywords: GDF5; TRPS1; brachydactyly; frameshift and missense variant; tricho-rhino-phalangeal syndrome type III.

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References

    1. Temtamy SA, Aglan MS. Brachydactyly. Orphanet J. Rare Dis. 2008; 3: 15.
    1. Ludecke HJ, Schaper J, Meinecke P et al. Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am. J. Hum. Genet. 2001; 68: 81-91.
    1. Tariq M, Ahmad S, Ahmad W. A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III. Br. J. Dermatol. 2008; 159: 476-8.
    1. Derynck R, Zhang Y, Feng XH. Smads: Transcriptional activators of TGF-beta responses. Cell 1998; 95: 737-40.
    1. Suemoto H, Muragaki Y, Nishioka K et al. Trps1 regulates proliferation and apoptosis of chondrocytes through Stat3 signaling. Dev. Biol. 2007; 312: 572-81.

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