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Publications by M Pembrey

Congenital Cutis Laxa With Retardation of Growth and Development.

Journal of Medical Genetics

English

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Congenital Cutis Laxa With a Dominant Inheritance and Early Onset Emphysema.

Respiratory Medicine

English

Severe Congenital Cutis Laxa With Cardiovascular Manifestations Due to Homozygous Deletions in ALDH18A1

Molecular Genetics and Metabolism

Molecular Biology

English

Autosomal Dominant Cutis Laxa

English

Autosomal Recessive Cutis Laxa Type 2B

English

Cutis Laxa: A Feature of Costello Syndrome.

Journal of Medical Genetics

English

Growth Retardation of Infants With Congenital Postural Deformities

Pediatric Research

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Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families With Cutis Laxa Type 2

American Journal of Human Genetics

English

A Newborn With Arterial Tortuosity Syndrome: The Importance of Timely Diagnostic Work-Up in Patients Presenting With Cutis Laxa

Journal of Functional Morphology and Kinesiology

Sports Medicine

Physical Therapy

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Elastólise Pós-Inflamatória E Cutis Laxa (Doença De James Marshall): Estudo De Casos

Anais Brasileiros de Dermatologia

English