Familial Scaphocephaly Syndrome Caused by a Novel Mutation in the FGFR2 Tyrosine Kinase Domain

Journal of Medical Genetics - United Kingdom
doi 10.1136/jmg.2004.027888
Full Text
Abstract

Available in full text

Categories
Genetics
Date
Authors
Publisher

BMJ

Related search

Congenital Hereditary Lymphedema Caused by a Mutation That Inactivates VEGFR3 Tyrosine Kinase

American Journal of Human Genetics
Genetics
2000English

Congenital Long-Qt Syndrome Caused by a Novel Mutation in a Conserved Acidic Domain of the Cardiac Na+ Channel

Circulation
Cardiovascular MedicinePhysiologyCardiology
1999English

Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings

Movement Disorders Clinical Practice
Neurology
2019English

Correction To: Adipokines and the Insulin Resistance Syndrome in Familial Partial Lipodystrophy Caused by a Mutation in Lamin a/C

Diabetologia
Internal MedicineEndocrinologyMetabolismDiabetes
2019English

Familial Chilblain Lupus Caused by an Activating Mutation in STING

Pediatric Rheumatology
ImmunologyPediatricsRheumatologyAllergyPerinatologyChild Health
2015English

Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation

Journal of the American College of Cardiology
Cardiovascular MedicineCardiology
2010English

Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene

PLoS ONE
Multidisciplinary
2016English

Familial Isolated Hypoparathyroidism Caused by a Mutation in the Gene for the Transcription Factor GCMB

Journal of Clinical Investigation
Medicine
2001English

First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused by a Novel De Novo Mutation (E197X) in UMOD

Journal of Molecular and Genetic Medicine
2016English

Amanote Research

Note-taking for researchers

Follow Amanote

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

Privacy PolicyRefund Policy