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Article

Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases.

American journal of medical genetics. Part A - 1 Feb 2025

Kanai Yu, Takahashi Hironori, Hasegawa Fuyuki, Hori Asuka, Suzuki Hisato, Takahashi Shoko, Fukushima Hiroko, Takada Hidetoshi, Horie Kenji, Ozawa Katsunori, Furukawa Rieko, Kosaki Kenjiro, Hata Kenichiro

Abstract excerpt

Baller-Gerold syndrome (BGS, OMIM: 218600), RAPADILINO syndrome (OMIM 266280), and Rothmund-Thomson syndrome (RTS, OMIM 266280), which are caused in some cases by RECQL4 pathogenic variants, show autosomal recessive inheritance. Some refer to them collectively as RECQL4 syndromes. Most cases have been reported during infancy and childhood periods. However, there have been no reports of phenotypes resulting in a...

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Identifiers

PMID: 39324487
DOI: 10.1002/ajmg.a.63884

Genes

RECQL4

Provenance

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