منابع مشابه
Phenotypic variation in LADD syndrome.
A mother and son are reported with chronic dacrocystitis, cup shaped ears, hearing loss, abnormal teeth, and poor formation of saliva and tears. They are similar to previously reported cases of lacrimo-auriculo-dento-digital (LADD) syndrome. The variability of expression of this autosomal dominant syndrome is discussed, and it is suggested that poor saliva and tear formation be added to the phe...
متن کاملMolecular and phenotypic variation in patients with severe Hunter syndrome.
Severe Hunter syndrome is a fatal X-linked lysosomal storage disorder caused by iduronate-2-sulphatase (IDS) deficiency. Patients with complete deletion of the IDS locus often have atypical phenotypes including ptosis, obstructive sleep apnoea, and the occurrence of seizures. We have used genomic DNA sequencing to identify several new genes in the IDS region. DNA deletion patients with atypical...
متن کاملSomatic mosaicism contributes to phenotypic variation in Timothy syndrome.
Timothy syndrome type 1 (TS-1) is a rare disorder that affects multiple organ systems and has a high incidence of sudden death due to profound QT prolongation and resultant ventricular arrhythmias. All previously described cases of TS-1 are the result of a missense mutation in exon 8A (p.G406R), an alternatively spliced variant of the L-type calcium channel gene (Ca(v)1.2, CACNA1C). Most patien...
متن کاملPhenotypic Variation of Indigenous Sesame landraces in Urmia Climate
Sesame is one of the oldest and most important oilseeds in Iran and the world due to its nutritional value. In the present study, 25 sesame landraces collected from different regions of the country were evaluated in terms of phenological, morphological and physiological traits in Urmia climate. The ANOVA results showed that there was a statistically significant difference between the landra...
متن کاملSplit hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes.
A mother and daughter are reported with apparently dissimilar syndromes. The mother has a split hand/split foot deformity and the daughter a condition consistent with a diagnosis of LADD syndrome. Absence of clefting and deficient formation of saliva and tears are the main signs that differentiate the LADD from the EEC syndrome. However, no distinct feature is constant between these two autosom...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1985
ISSN: 1468-6244
DOI: 10.1136/jmg.22.5.382