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Table. Chromosomal Markers for Meckel Gruber Syndrome

Table. Chromosomal Markers for Meckel Gruber Syndrome

Protein Name	Locus Name	Gene	Chromosomal Locus
Meckel syndrome type 1 protein	MKS1	MKS1	17q23
...	MKS2	TMEM216	11q13
Meckelin	MKS3	TMEM67	8q21.1-q22.1
...	MKS4	CEP290	12q21.3
Protein fantom	MKS5	RPGRIP1L	16q12.2
Coiled-coil and C2 domain-containing protein 2A	MKS6	CC2D2a	4p15.3
...	MKS7	NPHP3	3q22.1
...	MKS8	TCTN2	12q24.31
...	MKS9	B9D1	17p11.2
...	MKS10	B9D2	19q13.2
...	MKS11	TMEM231	16q23.1
...	MKS12	KIF14	1q32.1

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Author

Parul Bhagwati Jayakar, MD, MS, FACMG Director of Neurogenetics/Metabolic Program, Director of Cytogenetics Laboratory, Consultant in Clinical Genetics, Division of Genetics and Metabolism, Miami Children's Hospital; Assistant Professor, Genetics Residency Program Director, University of Miami, Leonard M Miller School of Medicine

Parul Bhagwati Jayakar, MD, MS, FACMG is a member of the following medical societies: American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Coauthor(s)

Michail Spiliopoulos, MD Clinical Assistant Professor, Department of Obstetrics, Gynecology, and Reproductive Sciences, Temple University Hospital

Michail Spiliopoulos, MD is a member of the following medical societies: American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists

Disclosure: Nothing to disclose.

Anuj Jayakar Georgetown University School of Medicine

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Margaret M McGovern, MD, PhD Professor and Chair of Pediatrics, Stony Brook University School of Medicine

Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Chief Editor

Luis O Rohena, MD, PhD, FAAP, FACMG Deputy Chief, Department of Pediatrics, Chief, Medical Genetics, San Antonio Military Medical Center; Associate Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Associate Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD, PhD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Additional Contributors

Christian J Renner, MD Consulting Staff, Department of Pediatrics, University Hospital for Children and Adolescents, Erlangen, Germany

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous authors Suzanne M Carter, MS, and Susan J Gross, MD, FRCS(C), FACOG, FACMG, to the original writing and development of this article.