Letter to the Editor regarding “New cases of recently described <scp>Thauvin‐Robinet‐Faivre</scp> syndrome with a novel homozygous <scp><i>FIBP</i></scp> gene variant” by Kılıç and Koşukçu, “An investigation of the etiology and follow‐up findings in 35 children with overgrowth syndromes, including biallelic <scp><i>SUZ12</i></scp> variant” by Yüksel Ülker et al. and “Expanding the phenotype and genotype in <scp>Thauvin‐Robinet‐Faivre</scp> syndrome: A new patient with a novel variant and additional clinical findings” by Duzenli et al.-Reference-Cited by-同舟云学术

Letter to the Editor regarding “New cases of recently described Thauvin‐Robinet‐Faivre syndrome with a novel homozygous FIBP gene variant” by Kılıç and Koşukçu, “An investigation of the etiology and follow‐up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant” by Yüksel Ülker et al. and “Expanding the phenotype and genotype in Thauvin‐Robinet‐Faivre syndrome: A new patient with a novel variant and additional clinical findings” by Duzenli et al.

Published:2023-12-15 Issue: Volume: Page:
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:

Duzenli Tarik¹^ORCID,Sezer Abdullah¹²^ORCID,Percin Ferda Emriye¹³^ORCID

Affiliation:

1. Faculty of Medicine, Department of Medical Genetics Gazi University Ankara Turkey

2. Department of Medical Genetics Etlik City Hospital Ankara Turkey

3. GENTAN Genetic Diseases Evaluation Center İzmir Turkey

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63507

Reference6 articles.

1. A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation inFIBPgene

2. Expanding the phenotype and genotype in Thauvin‐Robinet‐Faivre syndrome: A new patient with a novel variant and additional clinical findings

3. Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters

4. New cases of recently described Thauvin‐Robinet‐Faivre syndrome with a novel homozygous FIBP gene variant

5. Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities