Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene☆☆☆

Authors :: Xinyue Zhang
Songmei Geng
Yi Zheng
Source :: Anais Brasileiros de Dermatologia, Anais Brasileiros de Dermatologia, Volume: 95, Issue: 4, Pages: 538-540, Published: 07 AUG 2020, Anais Brasileiros de Dermatologia, Vol 95, Iss 4, Pp 538-540 (2020)
Publication Year :: 2020
Publisher :: Sociedade Brasileira de Dermatologia, 2020.

Subjects :: Genetics
RecQ Helicases
business.industry
Rothmund-Thomson Syndrome
Dermatology
medicine.disease
Compound heterozygosity
RL1-803
Mutation (genetic algorithm)
Mutation
Medicine
Humans
Presentation (obstetrics)
Case Letter
business
Gene
Rothmund–Thomson syndrome

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