A New Case of Keratin 14 Functional Knockout Causes Severe Recessive EBS and Questions the Haploinsufficiency Model of Naegeli–Franceschetti–Jadassohn Syndrome

Journal of Investigative Dermatology - United Kingdom
doi 10.1038/jid.2011.166
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Elsevier BV

Related search

Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14

American Journal of Human Genetics
Genetics
2006English

COL5A1 Exon 14 Splice Acceptor Mutation Causes a Functional Null Allele, Haploinsufficiency of Α1(V) and Abnormal Heterotypic Interstitial Fibrils in Ehlers-Danlos Syndrome II

Journal of Biological Chemistry
BiochemistryCell BiologyMolecular Biology
2001English

Haploinsufficiency of A20 Causes Autoinflammatory and Autoimmune Disorders

Journal of Allergy and Clinical Immunology
AllergyImmunology
2018English

New Autosomal Recessive Faciodigitogenital Syndrome.

Journal of Medical Genetics
Genetics
1988English

Sprouty1 Haploinsufficiency Prevents Renal Agenesis in a Model of Fraser Syndrome

Journal of the American Society of Nephrology : JASN
MedicineNephrology
2012English

A New Syndrome of Autosomal Recessive Nephropathy, Deafness, and Hyperparathyroidism.

Journal of Medical Genetics
Genetics
1989English

Popliteal Pterygium Syndrome. Evidence for a Severe Autosomal Recessive Form.

Journal of Medical Genetics
Genetics
1972English

A Rare Cause of Nephrotic Syndrome in a 14-Year-Old Boy: Questions

Pediatric Nephrology
Child HealthPediatricsPerinatologyNephrology
2012English

Genetic Study of a New X-Linked Recessive Immunodeficiency Syndrome.

Journal of Clinical Investigation
Medicine
1992English

Amanote Research

Note-taking for researchers

Follow Amanote

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

Privacy PolicyRefund Policy