Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?-Reference-Cited by-同舟云学术

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Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?

Published:2018-01-25 Issue:2 Volume:95 Page:253-261
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Lonardo F.¹^ORCID,Lonardo M.S.¹,Acquaviva F.¹²,Della Monica M.³,Scarano F.¹,Scarano G.¹

Affiliation:

1. Medical Genetics Unit, A.O.R.N. “G. Rummo”; Benevento Italy

2. Department of Translational Medical Science - Section of Pediatrics; Azienda Ospedaliera Universitaria Federico II; Naples Italy

3. Medical Genetics Unit, Meyer Children's Hospital; Florence Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13127/fullpdf

Reference40 articles.

1. Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth;Ohdo;J Med Genet,1986

2. Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation;Young;J Med Genet,1987

3. Mental retardation with blepharophimosis;Say;J Med Genet,1987

4. The Ohdo blepharophimosis syndrome: a third case;Biesecker;J Med Genet,1991

5. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive;Verloes;Am J Med Genet A,2006

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