Genetics in Medicine Open (Jan 2024)

P442: An atypical presentation of 17q12 recurrent deletion syndrome resulting in the misdiagnosis of Meckel-Gruber syndrome: A case report

Kathleen Renna,
Jennifer Black,
Nienke Dosa,
Robert Lebel

Affiliations

Kathleen Renna: Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, NY
Jennifer Black: Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, NY
Nienke Dosa: Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, NY
Robert Lebel: Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, NY

Journal volume & issue: Vol. 2
p. 101336

Abstract

No abstracts available.

Published in Genetics in Medicine Open

ISSN: 2949-7744 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Science: Biology (General): Genetics; Medicine
Website: https://www.sciencedirect.com/journal/genetics-in-medicine-open

About the journal