Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1 , RAF1 , RIT1 variants, and large deletion in NF1-Reference-Cited by-同舟云学术

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Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1 , RAF1 , RIT1 variants, and large deletion in NF1

Published:2021-06-29 Issue:12 Volume:185 Page:3623-3633
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Uludağ Alkaya Dilek¹^ORCID,Lissewski Christina²,Yeşil Gözde³,Zenker Martin²^ORCID,Tüysüz Beyhan¹^ORCID

Affiliation:

1. Department of Pediatric Genetics Cerrahpasa Medical School, Istanbul University‐Cerrahpasa Istanbul Turkey

2. Institute of Human Genetics, University Hospital Magdeburg Magdeburg Germany

3. Department of Medical Genetics Medical School, Bezmialem University Istanbul Turkey

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62410

Reference44 articles.

1. LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases

2. Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?

3. Ras/MAPK syndromes and childhood hemato-oncological diseases

4. Phenotype–genotype analysis of 242 individuals with RASopathies : 18‐year experience of a tertiary center in Brazil

5. Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules

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1. Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features;Genes;2024-07-13

2. Deciphering the pathogenic role of rare RAF1 heterozygous missense mutation in the late-presenting DDH;Frontiers in Genetics;2024-06-17

3. Genetic backgrounds and genotype-phenotype relationships in anthropometric parameters of 116 Japanese individuals with Noonan syndrome;CLIN PEDIATR ENDOCRI;2024

4. Phenotypic and genotypic spectrum of noonan syndrome: A retrospective analysis of 46 consecutive pediatric patients presented at a regional cardiac center in China;Heliyon;2024-03

5. Genetic backgrounds and genotype-phenotype relationships in anthropometric parameters of 116 Japanese individuals with Noonan syndrome;Clinical Pediatric Endocrinology;2024

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