A novel mutation in CDH11 , encoding cadherin‐11, cause Branchioskeletogenital (Elsahy‐Waters) syndrome-Reference-Cited by-同舟云学术

A novel mutation in CDH11 , encoding cadherin‐11, cause Branchioskeletogenital (Elsahy‐Waters) syndrome

Published:2018-09 Issue:9 Volume:176 Page:2028-2033
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Castori Marco¹,Ott Claus‐Eric²,Bisceglia Luigi¹,Leone Maria Pia¹,Mazza Tommaso³,Castellana Stefano³,Tomassi Jurgen⁴,Lanciotti Silvia⁵,Mundlos Stefan²⁶,Hennekam Raoul C.⁷,Kornak Uwe²⁶⁸,Brancati Francesco⁹¹⁰^ORCID

Affiliation:

1. Division of Medical GeneticsIRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy

2. Institute of Medical and Human GeneticsCharité ‐ Universitätsmedizin Berlin Berlin Germany

3. Bioinformatics UnitIRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy

4. Neurological Rehabilitation UnitSan Raffaele Hospital Cassino Italy

5. Medical Genetics Residency ProgrammeTor Vergata University Rome Italy

6. Max Planck Institute for Molecular GeneticsDevelopment and Disease Group Berlin Germany

7. Department of PediatricsAcademic Medical Centre, University of Amsterdam Amsterdam The Netherlands

8. Berlin‐Brandenburg Center for Regenerative TherapiesCharité ‐ Universitätsmedizin Berlin Germany

9. Department of LifeHealth and Environmental Sciences, University of L'Aquila L'Aquila Italy

10. Laboratory of Molecular and Cell BiologyIstituto Dermopatico dell'Immacolata (IDI) IRCCS Rome Italy

Funder

Italian Ministry of Health

Undiagnosed Disease Network Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.40379

Reference21 articles.

1. CDH2 and CDH11 act as regulators of stem cell fate decisions

2. Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance

3. N-cadherin and cadherin 11 modulate postnatal bone growth and osteoblast differentiation by distinct mechanisms

4. Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1

5. E-cadherin germline mutations in familial gastric cancer

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