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Publications by Claus-Eric Ott

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

Molecular Genetics and Metabolism

Molecular Biology

English

Evaluation of the Role of STAP1 in Familial Hypercholesterolemia

Scientific Reports

Multidisciplinary

English

Related publications

Congenital Cutis Laxa With Retardation of Growth and Development.

Journal of Medical Genetics

English

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

Respiratory Medicine

English

Autosomal Dominant Cutis Laxa

English

Autosomal Recessive Cutis Laxa Type 2B

English

Congenital Central Hypothyroidism Due to a Homozygous Mutation in theTSHβSubunit Gene

Case Reports in Pediatrics

English

Cutis Laxa: A Feature of Costello Syndrome.

Journal of Medical Genetics

English

Autosomal Recessive Severe Congenital Neutropenia Due to G6PC3 Deficiency

English

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

English