Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort-Reference-Cited by-同舟云学术

Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort

Published:2021-01-05 Issue:4 Volume:99 Page:519-528
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Rive Le Gouard Nicolas¹^ORCID,Jacquinet Adeline¹²^ORCID,Ruaud Lyse¹^ORCID,Deleersnyder Hélène¹,Ageorges Faustine¹,Gallard Jennifer¹,Lacombe Didier³,Odent Sylvie⁴,Mikaty Myriam⁴,Manouvrier‐Hanu Sylvie⁵,Ghoumid Jamal⁵,Geneviève David⁶,Lehman Natacha⁶^ORCID,Philip Nicole⁷,Edery Patrick⁸,Héron Delphine⁹,Rastel Coralie⁹,Chancenotte Sophie¹⁰,Thauvin‐Robinet Christel¹⁰,Faivre Laurence¹⁰,Perrin Laurence¹,Verloes Alain¹^ORCID

Affiliation:

1. Department of Genetics APHP Nord‐Université de Paris Robert Debré University Hospital and INSERM U1141 NeuroDiderot Paris France

2. Department of Genetics Sart Tilman University Hospital Liège Belgium

3. Department of Genetics, Bordeaux Pellegrin University Hospital Bordeaux France

4. Department of Genetics Rennes University Hospital Rennes France

5. Department of Genetics Lille Jeanne de Flandre, University Hospital Lille France

6. Department of Genetics Arnaud de Villeneuve University Hospital Montpellier France

7. Department of Genetics la Timone University Hospital Marseille France

8. Department of Genetics Femme‐Mère‐Enfant University Hospital Lyon France

9. Department of Genetics APHP Pitié‐Salpêtrière University Hospital Paris France

10. Department of Genetics Dijon University Hospital Dijon France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13906

Reference40 articles.

1. Deletion of the 17 short arm in two patients with facial clefts;Smith ACM;Am J Med Genet,1982

2. Smith–Magenis syndrome

3. Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith–Magenis syndrome minimum deletion to ~650 kb

4. Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion

5. Smith–Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways

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