Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case‐series study-Reference-Cited by-同舟云学术

Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case‐series study

Published:2021-12-06 Issue:3 Volume:101 Page:296-306
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Martinez‐Glez Victor¹²³⁴^ORCID,Rodriguez‐Laguna Lara¹,Viana‐Huete Vanesa¹,García Torrijos Carolina¹,Hurtado Begoña¹,Lapunzina Pablo²³⁴⁵,Triana Paloma⁶,López‐Gutiérrez Juan Carlos⁶

Affiliation:

1. Vascular Malformations Section Institute of Medical and Molecular Genetics, INGEMM‐IdiPAZ, Hospital Universitario La Paz Madrid Spain

2. Clinical Genetics Section Institute of Medical and Molecular Genetics, INGEMM‐IdiPAZ, Hospital Universitario La Paz Madrid Spain

3. CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII Madrid Spain

4. Ithaca, European Reference Network, Hospital Universitario La Paz Madrid Spain

5. Overgrowth Syndromes Laboratory Institute of Medical and Molecular Genetics, INGEMM‐IdiPAZ, Hospital Universitario La Paz Madrid Spain

6. Vascular Anomalies Unit, Department of Pediatric Surgery Hospital Universitario La Paz Madrid Spain

Funder

European Regional Development Fund

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14095

Reference27 articles.

1. Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

3. A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

4. Capillary Malformation–Arteriovenous Malformation, a New Clinical and Genetic Disorder Caused by RASA1 Mutations

5. Diffuse capillary malformation with overgrowth: A clinical subtype of vascular anomalies with hypertrophy

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