Report of the First Clinical Case of a Moroccan Kabuki Patient With a Novel MLL2 Mutation

Molecular Syndromology - Switzerland
doi 10.1159/000346798
Full Text
Abstract

Available in full text

Categories
Genetics
Date
Authors
Publisher

S. Karger AG

Related search

A Novel Frameshift Mutation in the XPC Gene in a Moroccan Patient: A Case Report

Journal of Medical Case Reports
Medicine
2017English

Clinical and Molecular Report of Novel GALC Mutations in Moroccan Patient With Krabbe Disease: Case Report

BMC Pediatrics
Child HealthPediatricsPerinatology
2015English

A Novel TRPS1 Mutation in a Moroccan Family With Tricho-Rhino-Phalangeal Syndrome Type III: Case Report

BMC Medical Genetics
Genetics
2017English

Down Syndrome Associated With Clinical Manifestations of Kabuki Syndrome: Report of a Case

Jornal de Pediatria
Child HealthPediatricsPerinatology
1999English

A Novel BRCA1 Mutation in a Patient With Breast and Ovarian Cancer: A Case Report

Oncology Letters
Cancer ResearchOncology
2013English

Identification of a Novel Splicing Mutation in the SLC25A13 Gene From a Patient With NICCD: A Case Report

BMC Pediatrics
Child HealthPediatricsPerinatology
2019English

A Case Report of a Symptomatic Osteopoikilosis Patient Caused by Novel Mutation in LEMD3

Endocrine Abstracts
2016English

Eleven Percent Intact PGM3 in a Severely Immunodeficient Patient With a Novel Splice-Site Mutation, a Case Report

BMC Pediatrics
Child HealthPediatricsPerinatology
2018English

Primary Amenorrhea in Kabuki Syndrome: A Case Report

International Journal of Anatomy and Research
2018English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy