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Stiff skin syndrome
Marfan Syndrome Precision Panel Overview Indications Clinical Utility
Marfan Syndrome
86A1bedb377096cf412d7e5f593
Scleroderma Mimics - Clinical Features and Management
Mallory Prelims 27/1/05 1:16 Pm Page I
Skeletal Manifestations of Marfan Syndrome Associated to Heterozygous R2726W FBN1 Variant: Sibling Case Report and Literature Review Octavio D
A Review of the Type-1 Fibrillinopathies: Pathophysiology
A Case of Myhre Syndrome Mimicking Juvenile Scleroderma Barbara Jensen1*, Rebecca James2, Ying Hong1, Ebun Omoyinmi1, Clarissa Pilkington3, Neil J
FBN1 Gene Fibrillin 1
Medical & Clinical Case Reports
The Ocular Phenotype of Stiff-Skin Syndrome
Systemic Sclerosis Mimics Ondřej Kodet and Sabína Oreská
Scleroderma-Like Fibrosing Disorders Francesco Boin, Mda,*, Laura K
Sclerodermalike Syndromes: the Great Imitator
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1
Prevalence and Incidence of Rare Diseases
Recessive Gene List V2.0
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