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Publications by Perrine Pennamen

Mild Form of Oculocutaneous Albinism Type 1: Phenotypic Analysis of Compound Heterozygous Patients With the R402Q Variant of the TYR Gene

British Journal of Ophthalmology

Molecular Neuroscience

Sensory Systems

English

Deletion in 2q35 Excluding the IHH Gene Leads to Fetal Severe Limb Anomalies and Suggests a Disruption of Chromatin Architecture

European Journal of Human Genetics

English

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Oculocutaneous Albinism Type 1

English

Molecular Basis of Oculocutaneous Albinism Type 1 in Lebanese Patients

Journal of Human Genetics

English

Minimal Pigment Oculocutaneous Albinism Type 1

English

Oculocutaneous Albinism Type 1A

English

Oculocutaneous Albinism Type 6

English

Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan

American Journal of Human Genetics

English

Mutations in the Human Orthologue of the Mouse Underwhite Gene (Uw) Underlie a New Form of Oculocutaneous Albinism, OCA4

American Journal of Human Genetics

English

A Novel Compound Heterozygous Mutation of the AIRE Gene in a Patient With Autoimmune Polyendocrine Syndrome Type 1

Annals of Pediatric Endocrinology and Metabolism

English

Congenital Dyserythropoietic Anemia Type 1: A Case With Novel Compound Heterozygous Mutations in the C15orf41 Gene

American Journal of Hematology

English