Disease: Polysyndactyly microcephaly ptosis
- From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature
- Lathosterolosis
- Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease
- Pre and post axial polysyndactyly, microcephaly and ptosis
- Ring-G chromosome, a new G-deletion syndrome?
- Smith-Lemli-Opitz Syndrome
- The Saethre-Chotzen syndrome