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最近OMIM更新了不少條目，游俠心理有點(diǎn)發(fā)慌，好久沒(méi)交作業(yè)了，后悔一開(kāi)始低估了工作量，so為了提高各位讀者的英文水平，游俠決定應(yīng)該貼上英文原文，當(dāng)然為了照顧大家，對(duì)生僻單詞會(huì)增加注解，或者大家有什么好的建議，歡迎留言！

推送日期：2017.3.4

OMIM編號(hào)：129200

疾?。築ASAN SYNDROME，lack of fingerprints

表型：congenital facial milia, transient neonatal blistering（起泡） of the skin of the fingers and soles, palmoplantar hypohidrosis（掌跖少汗）, and digital contractures of variable severity.

基因：SMARCAD1

文獻(xiàn)證據(jù)：

In affected members of a 4-generation Chinese family with Basan syndrome mapping to 2 regions of chromosome 4, Li et al. (2016，pmid：26932190) performed exome and whole-genome sequencing and identified heterozygosity for a different mutation involving the same donor splice site in the SMARCAD1 gene (c.378+1G-T; 612761.0001)

OMIM編號(hào)：616224

疾?。篶ongenital myasthenic syndrome-22 (先天性肌無(wú)力綜合征22)

表型：neonatal hypotonia, eyelid ptosis（眼瞼下垂）, tented upper lip, and feeding difficulties.

基因：PREPL

文獻(xiàn)證據(jù)：

In a girl with CMS22, Regal et al. (2014) identified a heterozygous 33.6-kb deletion of chromosome 2p21 including exons 5 to 10 of the SLC3A1 gene (104614) and exons 9 to 14 of the PREPL gene inherited from the unaffected mother, and a heterozygous frameshift mutation in the PREPL gene (609557.0001) inherited from the unaffected father.

OMIM編號(hào)：617370

疾?。簆eroxisome biogenesis disorder-10B（過(guò)氧化物酶體生物合成障礙）

表型：neonatal jaundice（黃疸），high forehead, posteriorly rotated and low-set ears, and inverted nipples.

基因：PEX3

文獻(xiàn)證據(jù)：

In a 9-year-old boy with PBD10B, Maxit et al. (2016，pmid：27557811) identified compound heterozygous mutations in the PEX3 gene (R300X, 603164.0003 and G331R, 603164.0004). Each unaffected parent was heterozygous for 1 of the mutations. Functional studies of the variants were not performed. Patient cells showed a mosaic pattern of catalase-positive particles and peroxisomal membrane structures, consistent with the milder clinical phenotype.

推送日期：2017.3.3

OMIM編號(hào)：617383

疾?。簆rimary avascular necrosis of the femoral head（股骨頭的原發(fā)性無(wú)血管性壞死）

表型：bilateral avascular necrosis of the femoral head

基因：TRPV4

文獻(xiàn)證據(jù)：

In 4 affected sibs from a Greek family with avascular necrosis of the femoral head who were negative for mutation in the COL2A1 gene (120140), Mah et al. (2016) performed exome sequencing and identified heterozygosity for a truncating mutation in the TRPV4 gene。

推送時(shí)間：2017.2.28

OMIM編號(hào)：603457

疾?。?Bosma arhinia（無(wú)鼻） microphthalmia（小眼球） syndrome

表型：congenital absence of the nose and anterior nasopharynx（前鼻咽）

基因：SMCHD1

文獻(xiàn)證據(jù)：

By whole-genome, whole-exome, and targeted sequencing in 38 probands with arhinia（無(wú)鼻）, Shaw et al. (2017，pmid：28067909) identified heterozygous missense mutations in the SMCHD1 gene in 32 (84%) of the probands。

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