✦ LIBER ✦

Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female

✍ Scribed by Alao, M.J.; Lalèyè, A.; Lalya, F.; Hans, Ch.; Abramovicz, M.; Morice-Picard, F.; Arveiler, B.; Lacombe, D.; Rooryck, C.

Book ID: 121008997
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 932 KB
Volume: 55
Category: Article
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2012.07.005

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Refinement of a Translocation Breakpoint

Refinement of a Translocation Breakpoint Associated with Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome to a 280-kb Interval at Chromosome 3q23

✍ Carmel Toomes; Michael J. Dixon 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 195 KB

Blepharophimosis, ptosis, epicanthus inv

Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)]

✍ Boccone, Loredana ;Meloni, Antonella ;Falchi, Angela M. ;Usai, Valeria ;Cao, Ant 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 209 KB

Blepharophimosis, ptosis, and epicanthus

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: Review and gene assignment to the interface of band 3q22.3 and 3q23

✍ Jewett, Tamison ;Rao, P. Nagesh ;Weaver, R. Grey ;Stewart, William ;Thomas, Ioan 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 384 KB 👁 2 views

Interstitial deletion in 3q in a patient

Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: Clinical report and review of the literature

✍ M.H. de Ru; J.J.P. Gille; A.W.M. Nieuwint; J.B. Bijlsma; J.F. van der Blij; J.M. 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 172 KB 👁 2 views

The concurrence of the blepharophimosis,

The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient. Evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23?

✍ J.P. Fryns 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 126 KB