An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis.

Author:

Irvine A D,Dolan O M,Hadden D R,Stewart F J,Bingham E A,Nevin N C

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. Hereditary or idiopathic hyperplasia of the gums;Rushton, M.A.;Dental Practit,1957

2. Idiopathic gingival hyperplasia and hypertrichosis associated with acromegaloid features;Vontobel, F.;Helv Paediatr Acta,1973

3. An autosomal dominant syndrome with "acromegaloid" features and thickened oral mucosa;Hughes, H.E.; McAlpine, P.J.; Cox, D.W.; Philipps, S.A.;Jf Med Genet,1985

4. Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental and digital defects. Confirmation of the Gorlin-Chaudhry-Moss syndrome;Ippel, P.F.; Gorlin, R.J.; Lenz, W.; VanDoorne, J.M.; Bijlsma, J.B.;AmJMed Genet,1992

5. Pachydermoperiostosis (idiopathic clubbing and periostosis): genetic and physiologic considerations;Hambrick, G.W.; Carter, D.M.;N Engl Jf Med,1965

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