Protein‐elongating mutations inMYH11are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease-Reference-Cited by-同舟云学术

Protein‐elongating mutations inMYH11are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease

Published:2020-02-06 Issue:5 Volume:41 Page:973-982
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Gilbert Melissa A.¹^ORCID,Schultz‐Rogers Laura²³,Rajagopalan Ramakrishnan¹,Grochowski Christopher M.¹,Wilkins Benjamin J.⁴,Biswas Sawona⁵,Conlin Laura K.¹,Fiorino Kristin N.⁶⁷,Dhamija Radhika⁸,Pack Michael A.⁹¹⁰,Klee Eric W.²³¹¹,Piccoli David A.⁶⁷,Spinner Nancy B.¹^ORCID

Affiliation:

1. Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and The Perelman School of MedicineUniversity of Pennsylvania Philadelphia Pennsylvania

2. Center for Individualized MedicineMayo Clinic Rochester Minnesota

3. Department of Health SciencesMayo Clinic Rochester Minnesota

4. Division of Anatomic Pathology, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and The Perelman School of MedicineUniversity of Pennsylvania Philadelphia Pennsylvania

5. Division of Human Genetics, Department of PediatricsThe Children's Hospital of Philadelphia Philadelphia Pennsylvania

6. Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, The Children's Hospital of Philadelphia and The Perelman School of MedicineUniversity of Pennsylvania Philadelphia Pennsylvania

7. The Suzi and Scott Lustgarten Center for GI Motility, Division of Gastroenterology, Hepatology and Nutrition, The Children's Hospital of Philadelphia and The Perelman School of MedicineUniversity of Pennsylvania Philadelphia Pennsylvania

8. Department of Medical GeneticsMayo Clinic Phoenix Arizona

9. Division of Gastroenterology, Department of Medicine, The Perelman School of MedicineUniversity of Pennsylvania Philadelphia Pennsylvania

10. Department of Cell and Developmental Biology, The Perelman School of MedicineUniversity of Pennsylvania Philadelphia Pennsylvania

11. Department of Clinical GenomicsMayo Clinic Rochester Minnesota

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23986

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4. Oesophageal hiatus hernia in three generations of one family

5. Familial hiatal hernia in a large five generation family confirming true autosomal dominant inheritance

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