CERE 发表于 2025-3-28 16:24:26

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).

艰苦地移动 发表于 2025-3-28 20:04:57

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.

没血色 发表于 2025-3-29 00:40:36

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儿童 发表于 2025-3-29 03:42:09

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粗俗人 发表于 2025-3-29 10:37:16

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anagen 发表于 2025-3-29 15:02:28

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分贝 发表于 2025-3-29 16:08:23

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

预示 发表于 2025-3-29 20:54:58

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PANT 发表于 2025-3-30 03:11:43

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

低能儿 发表于 2025-3-30 06:23:52

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