H. Schumacher

Clinical, Endocrine, and Molecular Genetic Findings in Patients with 17β-Hydroxysteroid Dehydrogenase Deficiency

O. Hiort, W. Sippell, P. Holterhus, 2000, Hormone Research in Paediatrics.

Human dihydroxyacetonephosphate acyltransferase deficiency: A new peroxisomal disorder

R. Wanders, R. Schutgens, J. Tager, 1992, Journal of Inherited Metabolic Disease.

Goldenhar, Möbius and hypoglossia-hypodactyly anomalies in a patient: Syndrome or association?

H. Lenard, F. Majewski, S. Preis, 1996, European Journal of Pediatrics.

A Chromosome 13q+in a patient with characteristics of the trisomy 13 syndrome

H. Hoehn, U. Wolf, H. Wehinger, 2004, Humangenetik.

Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.

P. Robinson, T. Rosenberg, C. Nienaber, 2000, American journal of medical genetics.