Suggestions 发表于 2025-3-25 04:26:29
http://image.papertrans.cn/b/image/164238.jpgDEAF 发表于 2025-3-25 11:22:49
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Angelman Syndrome,hter, absent speech, and dysmorphic facial features. The syndrome, which bears his name, was originally called the “happy puppet” syndrome. The incidence is estimated to be 1 in 12,000 to 1 in 20,000 (Clayton-Smith and Pembrey 1992; Petersen et al. 1995; Steffenburg et al. 1996).strdulate 发表于 2025-3-25 17:57:32
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.暗语 发表于 2025-3-25 20:02:58
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Ataxia-Telangiectasia,pulmonary infections, radiosensitivity, and a predisposition to malignancy. It is the most common cause of progressive cerebellar ataxia in childhood. The prevalence is estimated to be 1 in 40,000–1 in 100,000 live births.indices 发表于 2025-3-26 04:23:35
From QTL Mapping to eQTL Analysis,In 1945, Adams and Oliver described congenital transverse limb defects associated with aplasia cutis congenita in a three-generation kindred with typical autosomal dominant inheritance and intrafamilial variable expressivity.Meditate 发表于 2025-3-26 08:30:13
From QTL Mapping to eQTL Analysis,Agnathia is an extremely rare lethal neurocristopathy. The disorder has also been termed agnathia-holoprosencephaly spectrum, agnathia-otocephaly complex, agnathia-astomia-synotia, or cyclopia-otocephaly association. The incidence is estimated to be 1 in 70,000 infants (Schiffer et al. 2002).PACT 发表于 2025-3-26 13:47:20
Jianhua Han,Shanshan Du,Jikui WenIn 1965, Aicardi et al. reported a new syndrome consisting of spasms in flexion, callosal agenesis, and ocular abnormalities. Actual frequency of the condition is not known, but about 1–4% of cases of infantile spasms from tertiary referral centers may be due to Aicardi syndrome.Crater 发表于 2025-3-26 17:15:31
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