Amrita Journal of Medicine, 2021 Marfan’s syndrome is an autosomal dominant genetic disorder related to a mutation in fibrillin gene type 1 involving mainly the cardiovascular, ocular, skeletal, and pulmonary systems.
Puneet Singla +3 more
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Genetic architecture of body size in mammals [PDF]
, 2012 Much of the heritability for human stature is caused by mutations of small-to-medium effect.
Goddard, Michael E. +2 more
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Congenital contractural arachnodactyly (Beals syndrome)
Orphanet Journal of Rare Diseases, 2006 Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.
Alanay Yasemin, Tunçbilek Ergül
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Research progress in Haim-Munk syndrome
Pifu-xingbing zhenliaoxue zazhi, 2023 Haim-Munk syndrome is an extremely rare autosomal recessive genetic disease, characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, arachnodactyly, acro-osteolysis, pes planus foot and nail atrophic deformation.
Dandan DONG +6 more
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Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree [PDF]
, 2018 Background: Thoracic aortic aneurysm (TAA) is a potentially life-threatening disorder with a strong genetic component. The number of genes implicated in TAA has increased exponentially over the last decade.
Bekkers, S.C.A.M. +14 more
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Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome [PDF]
, 2006 Arterial tortuosity syndrome (ATS) is an autosomal recessive disorder characterized by tortuosity, elongation, stenosis and aneurysm formation in the major arteries owing to disruption of elastic fibers in the medial layer of the arterial wall1 ...
Barlati S +17 more
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A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly
FEBS Open Bio, 2015 Congenital contractural arachnodactyly (CCA, OMIM:121050) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS, OMIM:154700), including contractures, arachnodactyly, dolichostenomelia, scoliosis, crumpled ears and ...
Wei Liu +9 more
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Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome [PDF]
, 2003 Background: PLS is a rare autosomal recessive disorder characterized by early onset periodontopathia and palmar plantar keratosis. PLS is caused by mutations in the cathepsin C (CTSC) gene.
Veeriah Selvaraju +7 more
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Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland [PDF]
, 2010 Background The 22q11.2 microdeletion syndrome (22q11.2 deletion syndrome -22q11.2DS) refers to congenital abnormalities, including primarily heart defects and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia.
Anna Wozniak +13 more
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A Case of Geroderma Osteodysplasticum Syndrome: Unique Clinical Findings
Global Medical Genetics, 2022 Geroderma osteodysplasticum (GO; MIM 231070) is characterized by a typical progeroid facial appearance, wrinkled, lax skin, joint laxity, skeletal abnormalities with variable degree of osteopenia, frequent fractures, scoliosis, bowed long bones ...
Maha Alotaibi +3 more
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