Resource Center: genetics, abnormalities
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Description:
Provides data on the prevalence of birth defects and various genetic conditions. Additionally, it includes information on international prevalence and includes resources on the lifetime cost of care for certain conditions.
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University of Kansas Medical Center 0
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Fanconi anemia is an autosomal recessive disorder affecting all bone marrow elements and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes.
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Online Mendelian Inheritance in Men 0
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A journal article about the BRCA 2 Gene. The article details cloning, gene structure, mapping, gene function, role in DNA repair, and molecular genetics.
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Online Mendelian Inheritance in Men 0
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The Arc is the world’s largest community based organization of and for people with intellectual and developmental disabilities. It provides an array of services and support for families and individuals and includes over 140,000 members affiliated through more than 730 state and local chapters across the nation. The Arc is devoted to promoting and improving supports and services for all people with intellectual and developmental disabilities.
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The Arc of the United States 0
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This article provides information on the disease characteristics of FMR1-related disorders including fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian failure (POF).
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University of Washington 0
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This article describes the disease characteristics of dystrophinopathies, which include Duchenne/Becker muscular dystrophy.
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University of Washington 0
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Congenital Anomalies
Description:
Questions to Ask When There Is a Family History of Congenital Anomalies For the child or adult with congenital anomalies or developmental variants:
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This web page describes the background, pathophysiology, mortality and morbidity, as well as the clinical aspects such as causes, symptoms, and treatment of the abnormality hypospadias.
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Medscape 0
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This web page describes the congenital abnormality clubfoot, including a description of the deformity and pictures, as well as a description of treatment.
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Southern California Orthopedic Institute 0
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A form for filling out an infant or child's family history.
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March of Dimes 0
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: all » geneticsTopics
: all » abnormalitiesResource Type
- article (2)
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- form (1)
- guidelines (1)
- journal article (4)
- misc information materials (9)
- organization (1)
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- assessment (2)
- children (1)
- chromosomes (1)
- complex inheritance (2)
- congenital (3)
- diagnosis (2)
- family (1)
- guidelines (1)
- history (1)
- medical history (1)
- prevalence (1)
- research (1)
- support systems (1)
- testing (1)
