Phenotype variability in the Miller acrofacial dysostosis syndrome. Report of two further patients
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1989.tb02922.x/fullpdf
Reference8 articles.
1. Postaxial acrofacial dysostosis (Miller) syndrome;Donnai;J. Med. Genet.,1987
2. Recurrence of the postaxial acrofacial dysostosis syndrome in a sibship: implications for genetic counseling;Fineman;J. Pediatr.,1981
3. Brief clinical report. Acrofacial dysostosis with postaxial limb deficiency;Fryns;Am. J. Med. Genet.,1988
4. Une forme extensive de dysostose mandibulo-faciale;Genée;J. Génét. Hum.,1969
5. Letter to the Editor. Robin sequence and oligodactyly in mother and son. Probably a further example of the postaxial acrofacial dysostosis syndrome;Meinecke;Am. J. Med. Genet.,1987
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1. Bilateral absence of fifth ray in feet, cleft palate, malformed ears, and corneal opacity in a patient with Miller syndrome;Egyptian Journal of Medical Human Genetics;2014-04
2. Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH;Human Molecular Genetics;2012-06-12
3. Miller postaxial acrofacial dysostosis syndrome. Follow-up data of a family and confirmation of autosomal recessive inheritance;Clinical Genetics;2008-04-23
4. A variant or a “new” postaxial acrofacial dysostosis syndrome;European Journal of Pediatrics;2008-02-20
5. A new observation of two cases of acrofacial dysostosis type Genée-Wiedemann in a family—remarks on the mode of inheritance: Report on two sibs;American Journal of Medical Genetics;1996-09-06
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