Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes-Reference-Cited by-同舟云学术

Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes

Published:2018-04-21 Issue:5 Volume:176 Page:1166-1174
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Ivanovski Ivan¹²^ORCID,Akbaroghli Susan³^ORCID,Pollazzon Marzia¹,Gelmini Chiara¹,Caraffi Stefano Giuseppe¹⁴,Mansouri Mahboubeh⁵,Chavoshzadeh Zahra⁵,Rosato Simonetta¹,Polizzi Valeria⁶,Gargano Giancarlo⁷,Alders Marielle⁸,Garavelli Livia¹^ORCID,Hennekam Raoul C.⁹

Affiliation:

1. Clinical Genetics Unit, Department of Obstetrics and PediatricsAUSL‐IRCCS, Reggio Emilia Italy

2. Department of Surgical, Medical, Dental and Morphological Sciences with interest in Transplant, Oncology and Regenerative MedicineUniversity of Modena and Reggio Emilia Modena, Italy

3. Clinical Genetics Division, Faculty of Medicine, Mofid Children's HospitalShahid Beheshti University of Medical SciencesTehran Iran

4. Laboratory of Translational researchAUSL‐IRCCS, Reggio Emilia Italy

5. Department of Pediatric Immunology and Allergy, Faculty of Medicine, Mofid Children's HospitalShahid Beheshti University of Medical SciencesTehran, Iran

6. Department of Otorhinolarynogology and AudiologyAUSL‐IRCCS, Reggio Emilia Italy

7. Department of NeonatologyAUSL‐IRCCS, Reggio Emilia Italy

8. DNA Diagnostics Laboratory, Academic Medical CenterUniversity of AmsterdamAmsterdam the Netherlands

9. Department of Pediatrics, Academic Medical CenterUniversity of AmsterdamAmsterdam the Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38652

Reference17 articles.

1. Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome

2. Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

3. Evaluation of clinical manifestations in patients with severe lymphedema with and without CCBE1 mutations;Alders M.;Molecular Syndromology,2013

4. Stromal Fat4 acts non-autonomously with Dachsous1/2 to restrict the nephron progenitor pool

5. Original Solution for Middle Ear Implant and Anesthetic/Surgical Management in a Child with Severe Craniofacial Dysmorphism

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