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Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion
- First Published: 19 July 2024
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Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome
- First Published: 02 August 2024
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Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review
- First Published: 19 August 2024
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Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals
- First Published: 28 June 2024
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Expanded phenotype and cancer risk in patients with Beckwith–Wiedemann spectrum caused by CDKN1C variants
- First Published: 01 June 2024
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Developmental and behavioral phenotypes of pediatric patients with PTEN hamartoma tumor syndrome
- First Published: 28 March 2024
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Clinical findings in 39 individuals with Bohring–Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk
- First Published: 07 February 2023
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Benign goiters requiring thyroidectomy as the signal for PTEN hamartoma tumor syndrome diagnosis
- First Published: 01 December 2022
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A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening
- First Published: 13 December 2022