FSHD type 2 and Bosma arhinia microphthalmia syndrome
نویسندگان
چکیده
منابع مشابه
Visit to SMA and Bosma
Attached is a description of a visit I made to the SMA testing site and the panel manufacturer, Bosma corporation. Visit to the testing site for the SMA array
متن کاملCongenital arhinia.
In a case of congenital absence of the nose, spiral axial CT showed a tiny piriform anterior aperture on the right that ended blindly. Three-dimensional reformation of CT data showed an atretic bony plate, blind-ending right nostril, absent nasal bones, and inferior continuation of the metopic suture. Noncontrast MR findings in the brain were normal.
متن کاملA case of Lenz microphthalmia syndrome.
Lenz microphthalmia syndrome was first described by Lenz et al in 1955. The cardinal features of the syndrome are microphthalmia or anophthalmos, narrow shoulders, other skeletal anomalies, and dental and urogenital malformations. Here we present a case of Lenz microphthalmia syndrome who shows the typical characteristics and, additionally, dysgenesis of the corpus callosum associated with dila...
متن کاملThe Aliquot Constant, after Bosma and Kane
Let s(n) be the sum of those positive divisors of the natural number n other than n itself. A conjecture of Catalan–Dickson is that the “aliquot” sequence of iterating s starting at any n terminates at 0 or enters a cycle. There is a “counter” conjecture of Guy–Selfridge that while Catalan–Dickson may be correct for most odd numbers n, for most even seeds, the aliquot sequence is unbounded. Len...
متن کاملExpression Profiling of FSHD-1 and FSHD-2 Cells during Myogenic Differentiation Evidences Common and Distinctive Gene Dysregulation Patterns
BACKGROUND Determine global gene dysregulation affecting 4q-linked (FSHD-1) and non 4q-linked (FSHD-2) cells during early stages of myogenic differentiation. This approach has been never applied to FSHD pathogenesis. METHODOLOGY/PRINCIPAL FINDINGS By in vitro differentiation of FSHD-1 and FSHD-2 myoblasts and gene chip analysis we derived that gene expression profile is altered only in FSHD-1...
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ژورنال
عنوان ژورنال: Neurology
سال: 2018
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0000000000005958