ADA2 deficiency in a patient with Noonan syndrome‐like disorder with loose anagen hair: The co‐occurrence of two rare syndromes-Reference-Cited by-同舟云学术

ADA2 deficiency in a patient with Noonan syndrome‐like disorder with loose anagen hair: The co‐occurrence of two rare syndromes

Published:2019-10-04 Issue:12 Volume:179 Page:2474-2480
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Akgun‐Dogan Ozlem¹²^ORCID,Simsek‐Kiper Pelin O.¹^ORCID,Taskiran Ekim³,Lissewski Christina⁴,Brinkmann Julia⁴,Schanze Denny⁴,Göçmen Rahşan⁵,Cagdas Deniz⁶,Bilginer Yelda⁷,Utine Gülen E.¹,Zenker Martin⁴^ORCID,Ozen Seza⁷,Tezcan İlhan⁶,Alikasifoglu Mehmet¹³,Boduroğlu Koray¹³

Affiliation:

1. Division of Pediatric Genetics, Department of Pediatrics Hacettepe University Faculty of Medicine Ankara Turkey

2. Division of Pediatric Genetics, Department of Pediatrics Ümraniye Training and Research Hospital Istanbul Turkey

3. Department of Medical Genetics Hacettepe University Faculty of Medicine Ankara Turkey

4. Institute of Human Genetics University Hospital Magdeburg Magdeburg Germany

5. Department of Radiology Hacettepe University Faculty of Medicine Ankara Turkey

6. Division of Pediatric Immunology, Department of Pediatrics Hacettepe University Faculty of Medicine Ankara Turkey

7. Division of Pediatric Rheumatology, Department of Pediatrics Hacettepe University Faculty of Medicine Ankara Turkey

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61363

Reference46 articles.

1. Noonan syndrome and systemic lupus erythematosus: presentation in childhood

2. Recent advances in RASopathies

3. A Case Series of Adenosine Deaminase 2-deficient Patients Emphasizing Treatment and Genotype-phenotype Correlations

4. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype

5. Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations

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