Elsahy–Waters syndrome is caused by biallelic mutations in CDH11-Reference-Cited by-同舟云学术

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Elsahy–Waters syndrome is caused by biallelic mutations in CDH11

Published:2017-12-22 Issue:2 Volume:176 Page:477-482
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Harms Frederike L.¹,Nampoothiri Sheela²,Anazi Shams³,Yesodharan Dhanya²,Alawi Malik⁴,Kutsche Kerstin¹^ORCID,Alkuraya Fowzan S.³⁵^ORCID

Affiliation:

1. Institute of Human GeneticsUniversity Medical Center Hamburg‐EppendorfHamburgGermany

2. Department of Pediatric GeneticsAmrita Institute of Medical Sciences & Research CentreCochinKeralaIndia

3. Department of GeneticsKing Faisal Specialist Hospital and Research CenterRiyadhSaudi Arabia

4. University Medical Center Hamburg‐EppendorfBioinformatics CoreHamburgGermany

5. Department of Anatomy and Cell BiologyCollege of MedicineAlfaisal UniversityRiyadhSaudi Arabia

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38568

Reference31 articles.

1. Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

2. Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

3. Two brothers with hypospadias, hypertelorism, upper lid coloboma and mixed type hearing loss: a new syndrome

4. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

5. Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

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1. Exploration of the pathophysiology of high myopia via proteomic profiling of human corneal stromal lenticules;Experimental Eye Research;2024-01

2. A Japanese patient with Teebi hypertelorism syndrome and a novel CDH11 EC1 domain variant;American Journal of Medical Genetics Part A;2023-08-30

3. Hereditary dentin defects with systemic diseases;Oral Diseases;2023-04-24

4. Detailed clinical and radiological features of the first patient with Elsahy–Waters syndrome in East Asia;American Journal of Medical Genetics Part A;2021-07-19

5. Synophrys: The societal implications of the bad ol’ unibrow;Clinics in Dermatology;2021-07

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