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

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

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Bibliographische Detailangaben
Veröffentlicht in:American journal of medical genetics. Part A 2024-04, Vol.194 (4), p.e63507-n/a
Hauptverfasser: Duzenli, Tarik, Sezer, Abdullah, Percin, Ferda Emriye
Format: Artikel
Sprache:eng
Schlagworte:
Carrier Proteins - genetics
Child
Follow-Up Studies
Genotype
Genotypes
Homozygote
Humans
Membrane Proteins - genetics
Phenotype
Phenotypes
Online-Zugang:Volltext
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ISSN:1552-4825
1552-4833
1552-4833
DOI:10.1002/ajmg.a.63507