Phenotypic Variation and Allelic Heterogeneity in Young Patients with Papillon‐Lefèvre Syndrome
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چکیده
منابع مشابه
Molecular 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...
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Waardenburg Syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin. Microphthalmia-associated transcription factor (MITF) gene mutations account for about 15% of WS type II (WS2) cases. To date, fewer than 40 different MITF gene mutations have been identified in human WS2 patients, and few of these wer...
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ژورنال
عنوان ژورنال: Acta Dermato-Venereologica
سال: 2005
ISSN: 0001-5555
DOI: 10.1080/00015550510011619