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New study maps a group of rare genetic diseases for the first time
B ehind the term ectodermal dysplasia lies a wide range of genetic disorders that can have a major impact on patients' lives and quality of life. Some cannot sweat, others are born with missing or ...
HealthPrep on MSN9mon
Key Warning Signs Of EEC Syndrome
Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC syndrome) is a type of ectodermal dysplasia or a group of disorders ...
Nature15d
Guidelines for the prenatal diagnosis of fetal skeletal dysplasias
This policy statement discusses clinical guidelines for screening of fetuses suspected of manifesting a skeletal dysplasia or for pregnancies at-risk. Historically, in-utero radiographs of a fetus ...
Baylor College of Medicine3y
Burrage Lab Publications
Brooks D, Burke E, Lee S, Eble TN, O’Leary M, Osei-Owusu I, Rehm HL, Dhar SU, Emrick L, Bick D, Nehrebecky M, Macnamara E, Casas-Alba D, Armstrong J, Prat C ...