Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings
Author:
Publisher
Elsevier BV
Subject
Dermatology
Reference7 articles.
1. Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes;Sznajer;Eur J Pediatr,2008
2. Rothmund-Thomson syndrome;Larizza;Orphanet J Rare Dis,2010
3. Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients;Wang;Am J Med Genet,2001
4. Clinical utility gene card for: Rothmund-Thomson syndrome;Larizza;Eur J Hum Genet,2013
5. Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype;Colombo;Eur J Hum Genet,2014
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3. Rothmund-Thomson syndrome: a case series from a tertiary pediatric hospital in Mexico;Boletín Médico del Hospital Infantil de México;2022-01-27
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