16p13.11 microdeletion uncovers loss‐of‐function of a MYH11 missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome-Reference-Cited by-同舟云学术

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16p13.11 microdeletion uncovers loss‐of‐function of a MYH11 missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome

Published:2019-05-16 Issue:1 Volume:96 Page:85-90
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Kloth Katja¹,Renner Sina¹,Burmester Gunter²,Steinemann Doris³,Pabst Brigitte³,Lorenz Birgit⁴,Simon Ronald⁵,Kolbe Verena¹,Hempel Maja¹,Rosenberger Georg¹^ORCID

Affiliation:

1. Institute of Human GeneticsUniversity Medical Center Hamburg‐Eppendorf Hamburg Germany

2. Department of PediatricsAltonaer Kinderkrankenhaus Hamburg Germany

3. Department of Human GeneticsMedical Center Hannover Hannover Germany

4. Ophthalmology Practice Lorenz Hamburg Germany

5. Institute of PathologyUniversity Medical Center Hamburg‐Eppendorf Hamburg Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13557

Reference33 articles.

1. Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: Clinical reports and review of the literature

2. Fetal megacystis as a prenatal challenge: megacystis-microcolon-intestinal hypoperistalsis syndrome in a male fetus

3. Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review

4. Consanguinity and its relevance for the incidence of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): systematic review

5. Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): a rarity;Liaqat N;J Neonatal Surg,2015

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2. De novo and inherited micro-CNV at 16p13.11 in 21 Chinese patients with defective cardiac left-right patterning;Frontiers in Genetics;2024-09-09

3. Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature;Frontiers in Genetics;2024-08-16

4. MYH11rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload;2024-08-16

5. Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome;Molecular Genetics and Genomics;2024-04-16

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