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Uniparental disomies 7 and 14.
Hoffmann K, Heller R. Hoffmann K, et al. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):77-100. doi: 10.1016/j.beem.2010.09.004. Best Pract Res Clin Endocrinol Metab. 2011. PMID: 21396576 Review.
The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. Phenotypes range from unapparent to unmasking of an autosomal-recessive disease to presentation as a syndromic imprinting disorder. ...
The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. Phenotypes range from unapparent to unma …
Update on Sjögren-Larsson syndrome.
Lacour M. Lacour M. Dermatology. 1996;193(2):77-82. doi: 10.1159/000246217. Dermatology. 1996. PMID: 8884139 Review.
Sjogren-Larsson syndrome (SLS, MIM 270200) is a rare autosomal recessive neurocutaneous disorder due to a deficiency of the fatty aldehyde dehydrogenase and defined by a characteristic triad of symptoms including congenital ichthyosis, spastic di- or quadripl …
Sjogren-Larsson syndrome (SLS, MIM 270200) is a rare autosomal recessive neurocutaneous disorder due to a deficiency of …
Vertical transmission of the Ohdo blepharophimosis syndrome.
Mhanni AA, Dawson AJ, Chudley AE. Mhanni AA, et al. Am J Med Genet. 1998 May 1;77(2):144-8. Am J Med Genet. 1998. PMID: 9605288 Review.
Previously reported cases of OBS have been sporadic except for the report by Ohdo et al. [1986, J Med Genet 23:242-244] that described two affected sisters and a first cousin favoring autosomal recessive inheritance. The original report by Ohdo et al. [1986] may ref …
Previously reported cases of OBS have been sporadic except for the report by Ohdo et al. [1986, J Med Genet 23:242-244] that described two a …