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Publications by José Enrique Mejía
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
Biochemistry
Dermatology
Cell Biology
Molecular Biology
Related publications
Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14
American Journal of Human Genetics
Genetics
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
Biochemistry
Cell Biology
Molecular Biology
Haploinsufficiency of A20 Causes Autoinflammatory and Autoimmune Disorders
Journal of Allergy and Clinical Immunology
Allergy
Immunology
New Autosomal Recessive Faciodigitogenital Syndrome.
Journal of Medical Genetics
Genetics
Sprouty1 Haploinsufficiency Prevents Renal Agenesis in a Model of Fraser Syndrome
Journal of the American Society of Nephrology : JASN
Medicine
Nephrology
A New Syndrome of Autosomal Recessive Nephropathy, Deafness, and Hyperparathyroidism.
Journal of Medical Genetics
Genetics
Popliteal Pterygium Syndrome. Evidence for a Severe Autosomal Recessive Form.
Journal of Medical Genetics
Genetics
A Rare Cause of Nephrotic Syndrome in a 14-Year-Old Boy: Questions
Pediatric Nephrology
Child Health
Pediatrics
Perinatology
Nephrology
Genetic Study of a New X-Linked Recessive Immunodeficiency Syndrome.
Journal of Clinical Investigation
Medicine
