Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism

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Diffuse esophageal leiomyomatosis diagnosed by endoscopic ultrasonography and endoscopic mucosal cutting biopsy.X-Linked Sensorineural Hearing Loss: A Literature Review

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Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism

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2015 nî lūn-bûn

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Chinese family with diffuse oe ...... a case of gonosomal mosaicism

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Chinese family with diffuse oe ...... a case of gonosomal mosaicism

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Chinese family with diffuse oe ...... a case of gonosomal mosaicism

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Chinese family with diffuse oe ...... a case of gonosomal mosaicism

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Chinese family with diffuse oe ...... a case of gonosomal mosaicism

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Chinese family with diffuse oe ...... a case of gonosomal mosaicism

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Chinese family with diffuse oe ...... a case of gonosomal mosaicism

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Emily H M Wong

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Huimin Xia

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John K L Wong

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John Nicholls

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Kenneth K Y Wong

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Man-Ting So

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Maria-Mercè Garcia-Barcelo

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Pak C Sham

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Qiuming He

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Wei Liu

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P2860

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway

A genomic view of mosaicism and human disease.

Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome.

LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis

Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies.

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations.

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases.

Association of genetic variants with chronic kidney disease in Japanese individuals.

Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations.

The collagen VI-related myopathies: muscle meets its matrix.

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Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism

about

P2860

P2860

Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism

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