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Disruption of Alx1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding The Spectrum of Autosomal-Recessive Alx-Related Frontonasal Dysplasia
(Cell Press, 2010)
We present an autosomal-recessive frontonasal dysplasia (FND) characterized by bilateral extreme microphthalmia, bilateral oblique facial cleft, complete cleft palate, hypertelorism, wide nasal bridge with hypoplasia of ...
European Registration Process For Clinical Laboratory Geneticists In Genetic Healthcare
(Nature Publishing Group, 2017)
Tremendous progress in genetics and genomics led to a wide range of healthcare providers, genetic tests, and more patients who can benefit from these developments. To guarantee and improve the quality of genetic testing, ...
Mutations In The Gene Encoding The Rer Protein Fkbp65 Cause Autosomal-Recessive Osteogenesis Imperfecta
(Cell Press, 2010)
Osteogenesis imperfecta is a clinically and genetically heterogeneous brittle bone disorder that results from defects in the synthesis, structure, or posttranslational modification of type I procollagen. Dominant forms of ...