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Cranioectodermal dysplasia (Sensenbrenner's syndrome).

作者信息

Young I D

机构信息

Department of Child Health, Leicester Royal Infirmary.

出版信息

J Med Genet. 1989 Jun;26(6):393-6. doi: 10.1136/jmg.26.6.393.

DOI:10.1136/jmg.26.6.393
PMID:2661822
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1015626/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/086e/1015626/fe799e7b2ac4/jmedgene00056-0043-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/086e/1015626/f03070ec1550/jmedgene00056-0041-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/086e/1015626/c3621e031c4b/jmedgene00056-0042-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/086e/1015626/5fc8ef50df42/jmedgene00056-0042-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/086e/1015626/7c0f1e31b9b8/jmedgene00056-0042-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/086e/1015626/fe799e7b2ac4/jmedgene00056-0043-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/086e/1015626/f03070ec1550/jmedgene00056-0041-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/086e/1015626/c3621e031c4b/jmedgene00056-0042-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/086e/1015626/5fc8ef50df42/jmedgene00056-0042-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/086e/1015626/7c0f1e31b9b8/jmedgene00056-0042-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/086e/1015626/fe799e7b2ac4/jmedgene00056-0043-a.jpg

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DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA.阿米什人中的侏儒症。II. 软骨毛发发育不全。
Bull Johns Hopkins Hosp. 1965 May;116:285-326.
2
DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME.阿米什人中的侏儒症。一、埃利斯-范克里弗德综合征。
Bull Johns Hopkins Hosp. 1964 Oct;115:306-36.
3
Tricho-dento-osseous syndrome: heterogeneity or clinical variability.毛发-牙齿-骨综合征：异质性还是临床变异性。
Hum Mol Genet. 2017 Dec 1;26(23):4741-4751. doi: 10.1093/hmg/ddx356.
4
Role of Primary Cilia in Odontogenesis.原发性纤毛在牙齿发生中的作用。
J Dent Res. 2017 Aug;96(9):965-974. doi: 10.1177/0022034517713688. Epub 2017 Jun 12.
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Ellis-van Creveld Syndrome with Sagittal Craniosynostosis.埃利斯-范克里夫德综合征伴矢状缝早闭
Craniomaxillofac Trauma Reconstr. 2015 Jun;8(2):132-5. doi: 10.1055/s-0034-1393733. Epub 2014 Oct 27.
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Common skeletal features in rare diseases: New links between ciliopathies and FGF-related syndromes.罕见病中的常见骨骼特征：纤毛病与成纤维细胞生长因子相关综合征之间的新联系。
Rare Dis. 2013 Nov 11;1:e27109. doi: 10.4161/rdis.27109. eCollection 2013.
7
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.WDR19 基因突变导致的伴有骨骼异常和肾功能不全的纤毛病
Am J Hum Genet. 2011 Nov 11;89(5):634-43. doi: 10.1016/j.ajhg.2011.10.001. Epub 2011 Oct 20.
8
Probing the role of IFT particle complex A and B in flagellar entry and exit of IFT-dynein in Chlamydomonas.探究IFT 颗粒复合物 A 和 B 在衣滴虫鞭毛进出 IFT-动力蛋白中的作用。
Protoplasma. 2012 Jul;249(3):851-6. doi: 10.1007/s00709-011-0311-4. Epub 2011 Aug 19.
9
Craniofacial ciliopathies: A new classification for craniofacial disorders.颅面纤毛病：颅面畸形的一种新分类。
Am J Med Genet A. 2010 Dec;152A(12):2995-3006. doi: 10.1002/ajmg.a.33727.
10
Renal failure due to tubulointerstitial nephropathy in an infant with cranioectodermal dysplasia.
Pediatr Nephrol. 2006 Apr;21(4):574-6. doi: 10.1007/s00467-006-0031-8. Epub 2006 Feb 21.
Am J Med Genet. 1983 Oct;16(2):225-36. doi: 10.1002/ajmg.1320160212.
4
Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature.
Am J Med Genet. 1984 Oct;19(2):209-16. doi: 10.1002/ajmg.1320190202.
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New syndrome of skeletal, dental and hair anomalies.
Birth Defects Orig Artic Ser. 1975;11(2):372-9.
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Craniosynostosis. I. Sagittal synostosis: its genetics and associated clinical findings in 214 patients who lacked involvement of the coronal suture(s).
Teratology. 1976 Oct;14(2):185-93. doi: 10.1002/tera.1420140209.
7
A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia.
J Pediatr. 1977 Jan;90(1):55-61. doi: 10.1016/s0022-3476(77)80764-6.
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Cranioectodermal dysplasia.
Am J Dis Child. 1979 Dec;133(12):1275-6.
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Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability, and new syndrome updating.颅缝早闭及伴有颅缝早闭的综合征：发病率、遗传学、外显率、变异性及新综合征更新
Birth Defects Orig Artic Ser. 1979;15(5B):13-63.