Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13-Reference-Cited by-同舟云学术

Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13

Published:2014-05-07 Issue:7 Volume:164 Page:1734-1743
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Pavone Piero¹,Briuglia Silvana²,Falsaperla Raffaele¹,Warm Amiel²,Pavone Vito³,Bernardini Laura⁴,Novelli Antonio⁴,Praticò Andrea D.¹,Salpietro Vincenzo²,Ruggieri Martino⁵⁶

Affiliation:

1. Unit of Pediatrics and Pediatric Emergency; University Hospital “Policlinico-Vittorio Emanuele”; Catania Italy

2. Unit of Genetics and Immunology; Department of Pediatrics; University of Messina; Catania Italy

3. Institute of Orthopedics; University Hospital “Policlinico-Vittorio Emanuele”; Catania Italy

4. Institute of Medical Genetics; “CSS-Mendel” Institute; Rome Italy

5. Department of Educational Sciences; Chair of Pediatrics; University of Catania; Catania Italy

6. Institute of Neurosurgery; Department of Neurosciences; University of Catania; Catania Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36391/fullpdf

Reference25 articles.

1. Johanson-Blizzard syndrome;Almashraki;World J Gastroenterol,2011

2. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts;Barrow;J Med Genet,2002

3. Adams-Oliver syndrome: Additions to the clinical features and possible role of BM pathway;Baskar;Am J Med Genet Part A,2009

4. Bergsma D 1979

5. The Greig cephalopolysyndactyly syndrome;Biesecker;Orphanet J Rare Dis,2008

Cited by 56 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Malformations of the Spinal Cord: From Genetics to Diagnosis and Rehabilitation;Journal of Pediatric Neurology;2024-08-09

2. Anomalies of Midbrain Hindbrain Development: Midbrain Clefts, Cerebellar Nodular Heterotopia with Overlying Dysgenesis, Cerebellar Foliation Disorder, Pontine Tegmental Cap Dysplasia; Joubert Syndrome; Lhermitte Duclos Syndrome. Diagnosis, Classification and Rehabilitation Hypothesis;Journal of Pediatric Neurology;2024-05-30

3. Anomalies of the Craniocervical Junction (Chiari Malformations);Journal of Pediatric Neurology;2024-05-29

4. Polymicrogyria, Cobblestone Malformations, and Tubulin Mutation (Overmigration beyond Pial Limiting Membrane): Diagnosis, Treatment, and Rehabilitation Approach;Journal of Pediatric Neurology;2024-05-29

5. Defects of Midbrain/Hindbrain Development: Defects of Anteroposterior and Dorsoventral Patterning;Journal of Pediatric Neurology;2024-05-29