Back to Results
First PageMeta Content
Medical genetics / Genodermatoses / Syndromes / RECQL4 / Rothmund–Thomson syndrome / Genetic testing / Genetic counseling / Prenatal diagnosis / Gluten-sensitive enteropathy associated conditions / Health / Medicine / Rare diseases


Clinical utility gene card for: Rothmund–Thomson syndrome
Add to Reading List

Document Date: 2013-06-13 03:04:05


Open Document

File Size: 196,61 KB

Share Result on Facebook

City

Monza / Paris / Milano / /

Company

Schlesinger AE / Thomson / Macmillan Publishers Limited / /

Country

Italy / /

/

Event

Product Issues / /

Facility

University of Milan / University of Milan-Bicocca / /

/

IndustryTerm

carrier parents / treatment of describe) syndrome / carrier status / online publication / /

MedicalCondition

RECQL4-related diseases / periodontitis / Fanconi Anemia / Dyskeratosis Congenita / hyperpigmentation / metastasis / early-onset periodontitis / Werner syndrome / skin cancer / J Cancer / second malignancy / malocclusion / Atypical Rothmund-Thomson syndrome / BG disorders / neoplastic disease / disorder / DIarrhea / Gerold syndrome / juvenile osteosarcoma cases / Surgi- to cancer / mesenchymal tumors / tumor / Multiple cutaneous neoplasms / additional recessive disorders / chronic lesion evolving / cancer / tumors / bone tumor / cataracts / disease / osteosarcoma and deleterious mutations / notably squamous cell carcinoma / Rothmund-Thomson syndrome / osteosarcoma / even multicentric / osteosarcoma / epithelial carcinoma / cutaneous tumors / Epithelial tumors / pain / chromosomal instability disorders / very rare disorder / allelic disorders / Neutropenia (PN) syndrome / acute erythematous rash / GH deficiency / rash / RECQL4-associated diseases / cataract / syndrome / RECQL4 diseases / Will disease / /

MedicalTreatment

chemotherapy / counseling / radiation / /

Movie

Paris / France / /

Organization

European Society of Human Genetics / University of Milan / Milan / /

Person

Lidia Larizza / Arch Dermatol / Correspondence / /

/

Position

orthopedic surgeon / Professor / /

Product

cisplatin / fibroblasts / /

ProgrammingLanguage

DC / /

PublishedMedium

European Journal of Human Genetics / /

Technology

radiation / laser / chemotherapy / Genotype / /

URL

www.nature.com/ejhg / /

SocialTag