کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
4113747 | 1606051 | 2010 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome
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موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
بیماری های گوش و جراحی پلاستیک صورت
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome](/preview/png/4113747.png)
چکیده انگلیسی
CHARGE syndrome is an autosomal dominant disorder characterized by features represented in its acronym: Coloboma, Heart defect, Atresia of the choanae, Retarded growth and development, Genital abnormalities, Ear anomalies/deafness.We report two patients with a diagnosis of typical CHARGE syndrome and one with atypical clinical diagnosis. All the three patients had uni- or bilateral choanal atresia and sensorineural hearing loss. The patients were screened for CHD7 gene mutations. Three novel occurring de novo heterozygous mutations were identified: a mutation in the donor splice site of intron 24, a missense mutation in exon 2 and a deletion in exon 11.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: International Journal of Pediatric Otorhinolaryngology - Volume 74, Issue 12, December 2010, Pages 1441–1444
Journal: International Journal of Pediatric Otorhinolaryngology - Volume 74, Issue 12, December 2010, Pages 1441–1444
نویسندگان
Angela Michelucci, Paolo Ghirri, Paola Iacopetti, Maria Elena Conidi, Antonella Fogli, Fulvia Baldinotti, Sara Lunardi, Francesca Forli, Francesca Moscuzza, Stefano Berrettini, Antonio Boldrini, Paolo Simi, Silvia Pellegrini,