Beatrice De MariaTresia de JagerCaitlin SarubbiOliver BartschRaoul C. HennekamMolecular syndromologyDe Maria B, Mazzanti L, Roche N, Hennekam RC (2016) Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview. Am J Med Genet A 170: 1989-2001....
Barber–Say syndrome; autosomal dominant inheritance; phenotypic expression; surgical treatment Abstract We report on a father to daughter transmission of Barber–Say syndrome (BSS), a rare, congenital disorder characterized by severe generalized hypertrichosis, macrostomia, ocular telecanthus, bulbous nose...
Barber-Say syndrome: further delineation of the clinical spectrum We report on a 14-year-old girl who presented a multiple congenital anomaly pattern: ablepharon, hypertelorism, telecanthus, macrostomia, helix agenesis of... FM Cortés,LA Troncoso,AR Alliende,... - 《Genetics & Molecular Bi...
Say-Barber-Biesecker Syndrome (SBBS) rarechromo.org Unique lists other organisations’ message boards and websites in order to be helpful to families looking for information and support. This does not imply that we endorse their content or have any responsibility for it. This guide is not ...
Barber Say Syndrome (BSS) is a rare autosomal dominant disease, classified as an ectodermal dysplasia, affecting the eyelids and skin as well as exhibiting dysmorphic facial features. BSS exhibits variable phenotypes. Molecular analysis of patients with BSS identified mutations in the TWIST2 gene, ...
General anesthesia of a Japanese infant with Barber-Say syndrome a case report(日本婴儿Barber-Say综合征全身麻醉的一例报道).pdf 2020-02-24上传 General anesthesia of a Japanese infant with Barber-Say syndrome a case report(日本婴儿Barber-Say综合征全身麻醉的一例报道) ...
(MIM 610842) appears with coagulation anomalies due to mutations of the g-glutamyl carboxylase (GGCX) gene.24 Wrinkled, aged looking skin is present in Hutchinson Gilford Syndrome (MIM 176670) with a strikingly characteristic progeroid phenotype due to Lamin A mutations, and in Barber Say Syndrome...
A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phen... Osaki M, Makita Y, Miura J, Abe N, Noguchi S, Miyamoto A. Y Niida,Y Mitani,M Kuroda,... - Congenit Anom (Kyoto) 被引量...
这些包括遗传性先天性下垂1型(OMIM#178300;常染色体显性,其中有三种亚型仅涉及上睑下垂和眼裂狭窄)、OHDO综合征(OMIM#249620常染色体显性,伴有认知障碍、先天性心脏病、上睑下垂、牙齿发育不良和眼裂狭窄;OMIM#300895 X连锁,伴有粗糙的面部特征、认知障碍和眼裂狭窄;OMIM#603736常染色体显性亚型,以前被称为Say-Barber...
Rosenbloom KR, Armstrong J, Barber GP, Casper J, Clawson H, Diekhans M, et al. The UCSC Genome Browser database: 2015 update. Nucleic Acids Res. 2015;43(Database issue):D670–81. Article PubMed PubMed Central Google Scholar Delgado S, Velinov M. 7q21.3 Deletion involving enhancer ...