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Titlebook: Atlas of Genetic Diagnosis and Counseling; Harold Chen Book 2006Latest edition Humana Press 2006

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樓主: Body-Mass-Index
51#
發(fā)表于 2025-3-30 08:40:09 | 只看該作者
52#
發(fā)表于 2025-3-30 14:12:44 | 只看該作者
53#
發(fā)表于 2025-3-30 19:12:09 | 只看該作者
54#
發(fā)表于 2025-3-30 21:51:14 | 只看該作者
Achondroplasia,oplasts 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 1.72×10. and 5.57×10. per gamete per generation. Most infants with achondroplasia are born unexpectedly to parents of average sta
55#
發(fā)表于 2025-3-31 01:54:00 | 只看該作者
Alagille Syndrome,nary stenosis, butterfly-like vertebral arch defect, posterior embryotoxon, and peculiar facies. The syndrome is also known as arteriohepatic dysplasia. Alagille syndrome occurs in approximately 1 in 100,000 live births.
56#
發(fā)表于 2025-3-31 08:20:49 | 只看該作者
57#
發(fā)表于 2025-3-31 12:55:35 | 只看該作者
58#
發(fā)表于 2025-3-31 15:07:56 | 只看該作者
Aplasia Cutis Congenita,group of disorders characterized by absence of epidermis, dermis, and, sometimes, subcutaneous tissue, muscle, or bone on one or more parts of the body. The incidence is estimated to be 1 in 10,000 births.
59#
發(fā)表于 2025-3-31 18:17:55 | 只看該作者
60#
發(fā)表于 2025-4-1 00:47:32 | 只看該作者
Beckwith-Wiedemann Syndrome,scribed three unrelated patients with exomphalos, hyperplasia of the kidneys and pancreas, and adrenal cytomegaly. Wiedemann in 1964 reported a familial form of omphalocele with macroglossia. The incidence is estimated to be about 1 in 13,700 births.
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