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Ophthalmic Genetics|February 10, 2010
Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentisV Bennouna Greene, C Stoetzel, V Pelletier, et al.
Scientific Reports|December 3, 2017
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patientsD Baux, C Vaché, C Blanchet, et al.
Molecular Syndromology|December 23, 2011
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent PolydactylyE Schaefer, A Zaloszyc, J Lauer, et al.
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