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Tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities

MedGen UID:
441856
Concept ID:
CN074199
Disease or Syndrome
Synonyms: ODONTOTRICHOMELIC SYNDROME
 
OMIM®: 273400

Recent clinical studies

Etiology

Goyal N, Gurjar H, Sharma BS, Tripathi M, Chandra PS
BMJ Case Rep 2014 Jan 28;2014 doi: 10.1136/bcr-2013-201727. PMID: 24473423Free PMC Article

Diagnosis

Zeydan B, Benbir G, Uluduz D, Ince B, Goksan B, Islak C
Am J Med Genet A 2014 May;164A(5):1284-8. Epub 2014 Mar 24 doi: 10.1002/ajmg.a.36440. PMID: 24664815
Goyal N, Gurjar H, Sharma BS, Tripathi M, Chandra PS
BMJ Case Rep 2014 Jan 28;2014 doi: 10.1136/bcr-2013-201727. PMID: 24473423Free PMC Article
Karadag AS, Calka O, Bilgili SG, Karadag R, Bulut G
Genet Couns 2013;24(2):133-9. PMID: 24032282
Rapsomaniki M, Chiarella G, Mascaro I, Ceravolo F, Cassandro E, Strisciuglio P, Concolino D
Am J Med Genet A 2013 Aug;161A(8):2102-4. Epub 2013 Jun 21 doi: 10.1002/ajmg.a.35992. PMID: 23794220
Bozkurt B, Yildirim MS, Okka M, Bitirgen G
Am J Med Genet A 2013 Apr;161A(4):829-34. Epub 2013 Mar 12 doi: 10.1002/ajmg.a.35734. PMID: 23494824

Therapy

Karadag AS, Calka O, Bilgili SG, Karadag R, Bulut G
Genet Couns 2013;24(2):133-9. PMID: 24032282

Prognosis

Goyal N, Gurjar H, Sharma BS, Tripathi M, Chandra PS
BMJ Case Rep 2014 Jan 28;2014 doi: 10.1136/bcr-2013-201727. PMID: 24473423Free PMC Article
Stránecký V, Hoischen A, Hartmannová H, Zaki MS, Chaudhary A, Zudaire E, Nosková L, Barešová V, Přistoupilová A, Hodaňová K, Sovová J, Hůlková H, Piherová L, Hehir-Kwa JY, de Silva D, Senanayake MP, Farrag S, Zeman J, Martásek P, Baxová A, Afifi HH, St Croix B, Brunner HG, Temtamy S, Kmoch S
Am J Hum Genet 2013 May 2;92(5):792-9. Epub 2013 Apr 18 doi: 10.1016/j.ajhg.2013.03.023. PMID: 23602711Free PMC Article

Clinical prediction guides

Stránecký V, Hoischen A, Hartmannová H, Zaki MS, Chaudhary A, Zudaire E, Nosková L, Barešová V, Přistoupilová A, Hodaňová K, Sovová J, Hůlková H, Piherová L, Hehir-Kwa JY, de Silva D, Senanayake MP, Farrag S, Zeman J, Martásek P, Baxová A, Afifi HH, St Croix B, Brunner HG, Temtamy S, Kmoch S
Am J Hum Genet 2013 May 2;92(5):792-9. Epub 2013 Apr 18 doi: 10.1016/j.ajhg.2013.03.023. PMID: 23602711Free PMC Article

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