Titlebook: Atlas of Genetic Diagnosis and Counseling; Harold Chen Reference work 2017Latest edition Springer Science+Business Media LLC 2017 Cutaneou

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Asphyxiating Thoracic Dystrophy,In 1955, Jeune et al. described familial asphyxiating thoracic dystrophy (ATD) in a pair of siblings with severely narrow thoraxes. This condition is also known as Jeune syndrome. Incidence is estimated at 1 per 100,000–130,000 live births (den Hollander et al. 2001).

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Atelosteogenesis,In 1982, Maroteaux et al. proposed the term “atelosteogenesis” for a newborn skeletal dysplasia characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine, and other skeletal elements (Maroteaux et al. 1982). Atelosteogenesis encompasses a heterogeneous group of disorders with overlapping phenotypic features.

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Shuixia Guo,Christophe Ladroue,Jianfeng Fengoplasts in the USA and 65,000 on Earth. The incidence for achondroplasia is between 0.5 and 1.5 in 10,000 births. The mutation rate is high and is estimated to be between 1.72 and 5.57 × 10. per gamete per generation. Most infants with achondroplasia are born unexpectedly to parents of average statu

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Hiroaki Chiyokura,Fumihiko Kimurao virilization of genetic females or undervirilization of genetic males who have normal gonads. Less common are disorders of sexual differentiation that involve gonadal dysgenesis (Chi et al. 2008). In females, congenital adrenal hyperplasia (CAH), specifically 21-hydroxylase deficiency, is the most

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