Sclerotic bone lesions in tuberous sclerosis complex: A genotype-phenotype study-Reference-Cited by-同舟云学术

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Sclerotic bone lesions in tuberous sclerosis complex: A genotype-phenotype study

Published:2017-05-09 Issue:7 Volume:173 Page:1891-1895
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Boronat Susana¹²^ORCID,Barber Ignasi³,Thiele Elizabeth Anne¹

Affiliation:

1. Department of Neurology; Massachusetts General Hospital; Boston Massachusetts

2. Department of Pediatric Neurology; Vall d'Hebron Hospital; Universitat Autònoma de Barcelona; Barcelona Spain

3. Department of Pediatric Radiology, Hospital Sant Joan de Déu; Universitat de Barcelona; Barcelona Spain

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference28 articles.

1. CT of sclerotic bone lesions: Imaging features differentiating tuberous sclerosis complex with lymphangioleiomyomatosis from sporadic lymphangioleiomymatosis;Avila;Radiology,2010

2. Tuberous sclerosis complex without tubers and subependymal nodules: A phenotype-genotype study;Boronat;Clinical Genetics,2014

3. Sclerotic bone lesions at abdominal magnetic resonance imaging in children with tuberous sclerosis complex;Boronat;Pediatric Radiology,2016

4. Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified;Camposano;Annals of Human Genetics,2009

5. Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis;Carsillo;Proceedings of the National Academy of Sciences of the United States of America,2000

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3. Sclerotic Bone Lesions as a Clue in the Diagnosis of Three Generations of Tuberous Sclerosis Complex: Case Report and Review of Literature;Pediatric Neurology;2023-11

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