First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation-Reference-Cited by-同舟云学术

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation

Published:2016-09-28 Issue:1 Volume:173 Page:231-238
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Acquaviva Fabio¹,Sana Maria Elena²,Della Monica Matteo³,Pinelli Michele⁴,Postorivo Diana⁵,Fontana Paolo⁶,Falco Maria Teresa⁶,Nardone Anna Maria⁵,Lonardo Fortunato¹,Iascone Maria²,Scarano Gioacchino¹

Affiliation:

1. U.O. di Genetica Medica; A.O.R.N. “G. Rummo”; Benevento Italy

2. U.S.S.D. Laboratorio di Genetica Medica; ASST Papa Giovanni XXIII; Bergamo Italy

3. Unità di Genetica Medica; Ospedale Pediatrico Meyer; Firenze Italy

4. Telethon Institute of Genetic Medicine (TIGEM); Pozzuoli, Napoli Italy

5. U.O.C. Laboratorio di Genetica Medica; Policlinico Tor Vergata; Roma Italy

6. Dipartimento di Medicine Molecolare e Biotecnologie Mediche; Università “Federico II”; Napoli Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference25 articles.

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2. The face of Smith-Magenis syndrome: A subjective and objective study;Allanson;J Med Genet,1999

3. Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome;Bi;Hum Genet,2004

4. Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders;Campbell;Am J Hum Genet,2014

5. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome;Chen;Nat Genet,1997

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