Phenotypic and molecular characterization of five patients with <scp> <i>PIK3CA</i> </scp> ‐related overgrowth spectrum ( <scp>PROS</scp> )-Reference-Cited by-同舟云学术

Phenotypic and molecular characterization of five patients with PIK3CA ‐related overgrowth spectrum ( PROS )

Published:2022-03-02 Issue:6 Volume:188 Page:1792-1800
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Gökpınar İli Ezgi¹²^ORCID,Taşdelen Elifcan¹³^ORCID,Durmaz Ceren Damla¹⁴⁵^ORCID,Altıner Şule¹,Tuncalı Timur¹,Martinez‐Glez Victor⁶,Karabulut Halil Gürhan¹,Vural Seçil⁷,Ceylaner Serdar⁸,Acar Mustafa Oğuz¹,Ilgın Ruhi Hatice¹

Affiliation:

1. Department of Medical Genetics Ankara University School of Medicine Ankara Turkey

2. Genetic Diseases Center Başakşehir Çam and Sakura City Hospital İstanbul Turkey

3. Genetic Diseases Center Şanlıurfa Eyyübiye Training and Research Hospital Şanlıurfa Turkey

4. Genetic Diseases Center Gazi Yaşargil Training and Research Hospital Diyarbakır Turkey

5. Department of Medical Genetics Hacettepe University School of Medicine Ankara Turkey

6. Vascular Malformations Section Institute of Medical and Molecular Genetics (INGEMM‐IdiPAZ), Hospital Universitario La Paz, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII Madrid Spain

7. Department of Dermatology Koç University School of Medicine İstanbul Turkey

8. Intergen Genetic Diagnosis and Research Center Ankara Turkey

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62709

Reference39 articles.

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3. Clinical differentiation between proteus syndrome and hemihyperplasia: Description of a distinct form of hemihyperplasia

4. Overgrowth syndromes — clinical and molecular aspects and tumour risk

5. Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations

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