Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

Author:

Marchegiani Shannon,Davis Taylor,Tessadori Federico,van Haaften Gijs,Brancati Francesco,Hoischen Alexander,Huang Haigen,Valkanas Elise,Pusey Barbara,Schanze Denny,Venselaar Hanka,Vulto-van Silfhout Anneke T.,Wolfe Lynne A.,Tifft Cynthia J.,Zerfas Patricia M.,Zambruno Giovanna,Kariminejad Ariana,Sabbagh-Kermani Farahnaz,Lee Janice,Tsokos Maria G.,Lee Chyi-Chia R.,Ferraz Victor,da Silva Eduarda Morgana,Stevens Cathy A.,Roche Nathalie,Bartsch Oliver,Farndon Peter,Bermejo-Sanchez Eva,Brooks Brian P.,Maduro Valerie,Dallapiccola Bruno,Ramos Feliciano J.,Chung Hon-Yin Brian,Le Caignec Cédric,Martins Fabiana,Jacyk Witold K.,Mazzanti Laura,Brunner Han G.,Bakkers Jeroen,Lin Shuo,Malicdan May Christine V.,Boerkoel Cornelius F.,Gahl William A.,de Vries Bert B.A.,van Haelst Mieke M.,Zenker Martin,Markello Thomas C.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference68 articles.

1. Congenital shortening of the anterior lamella of all eyelids: the so-called ablepharon macrostomia syndrome;Cruz;Ophthal. Plast. Reconstr. Surg.,1995

2. Familial occurrence of ablepharon macrostomia syndrome: eyelid structure and surgical considerations;Cruz;Arch. Ophthalmol.,2000

3. Intermediate form of ablepharon-macrostomia syndrome with CNS abnormalities;Amor;Am. J. Med. Genet.,2001

4. Macrostomia, ectropion, atrophic skin, hypertrichosis and growth retardation;Barber;Syndr. Ident.,1982

5. Ablepharon-macrostomia syndrome in a 46-year-old woman;Brancati;Am. J. Med. Genet. A.,2004

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