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SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings.SOX9基因第106位密码子赖氨酸突变为谷氨酸导致无股骨弯曲型弯肢侏儒症：产前及产后临床发现。
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Prenatal diagnosis of campomelic dysplasia due to deletion.因缺失导致的先天性弯曲侏儒症的产前诊断。
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A case of campomelic dysplasia without sex reversal.一例未发生性别反转的卡梅隆氏发育不良。
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Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.一个三代家族的变异性，该家族患有皮埃尔·罗宾序列征、弯骨发育不全性侏儒症以及因SOX9上游约1兆碱基的新型缺失（包括KCNJ2和KCNJ16）导致的智力残疾。
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A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal.一例伴有XY性反转的弯肢侏儒症患者中发现一种新的SOX9基因无义突变q401x。
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SOX9 and SOX10 control fluid homeostasis in the inner ear for hearing through independent and cooperative mechanisms.SOX9 和 SOX10 通过独立和协作机制控制内耳中的液体动态平衡以实现听觉。
Proc Natl Acad Sci U S A. 2022 Nov 16;119(46):e2122121119. doi: 10.1073/pnas.2122121119. Epub 2022 Nov 7.
2
Absent pedicles in campomelic dysplasia.
Childs Nerv Syst. 2017 Jun;33(6):987-992. doi: 10.1007/s00381-017-3375-4. Epub 2017 Apr 26.

本文引用的文献

1
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.SOX9 上游长距离调控区缺失导致孤立性性别发育障碍。
J Med Genet. 2011 Dec;48(12):825-30. doi: 10.1136/jmedgenet-2011-100255. Epub 2011 Nov 2.
2
XX males SRY negative: a confirmed cause of infertility.XX 男性 SRY 阴性：确定的不育原因。
J Med Genet. 2011 Oct;48(10):710-2. doi: 10.1136/jmedgenet-2011-100036. Epub 2011 Jun 7.
3
A SOX9 duplication and familial 46,XX developmental testicular disorder.SOX9基因重复与家族性46,XX性发育睾丸疾病
N Engl J Med. 2011 Jan 6;364(1):91-3. doi: 10.1056/NEJMc1010311.
4
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.SOX9基因5'端非编码元件的重复与短指-无甲畸形相关。
Nat Genet. 2009 Aug;41(8):862-3. doi: 10.1038/ng0809-862.
5
Long-range regulation at the SOX9 locus in development and disease.发育和疾病中SOX9基因座的远程调控
J Med Genet. 2009 Oct;46(10):649-56. doi: 10.1136/jmg.2009.068361. Epub 2009 May 26.
6
Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9.由SOX9上游960 kb缺失引起的先天性脊柱骨骺发育不良的家族性肢弯曲型。
Am J Med Genet A. 2009 Jun;149A(6):1183-9. doi: 10.1002/ajmg.a.32830.
7
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.与皮埃尔·罗宾序列相关的SOX9两侧高度保守的非编码元件。
Nat Genet. 2009 Mar;41(3):359-64. doi: 10.1038/ng.329. Epub 2009 Feb 22.
8
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia.SOX9上游的两个新的易位断点确定了弯肢侏儒症近端和远端断点簇区域的边界。
Clin Genet. 2007 Jan;71(1):67-75. doi: 10.1111/j.1399-0004.2007.00736.x.
9
Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.在两名患弯肢侏儒症的患者中，由于染色体断点导致的位置效应，这些断点位于SOX9上游约900千碱基对及下游约1.3兆碱基对处。
Am J Hum Genet. 2005 Apr;76(4):652-62. doi: 10.1086/429252. Epub 2005 Feb 22.
10
Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia.在无肢畸形性软骨发育不全和一种轻度家族性骨骼发育不良中，对位于SOX9上游≥900 Kb的17号染色体易位断点进行精细定位。
Am J Hum Genet. 2005 Apr;76(4):663-71. doi: 10.1086/429254.

Clinical Utility Gene Card for: campomelic dysplasia.

作者信息

Scherer Gerd, Zabel Bernhard, Nishimura Gen

机构信息

Institute of Human Genetics, University of Freiburg, Freiburg, Germany.

出版信息

Eur J Hum Genet. 2013 Jul;21(7). doi: 10.1038/ejhg.2012.228. Epub 2012 Oct 10.

DOI:10.1038/ejhg.2012.228
PMID:23047745
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3722939/
Abstract
摘要