Disease: Oto-palato-digital syndrome- type 2
- A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation
- Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II
- Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2
- Clinical Experience of Treatment of Facial Malformations in Oto-Palato-Digital Syndrome: A Familial Patient
- Emergency salpingectomy for ruptured ectopic pregnancy in patient with Melnick-Needles syndrome: a rare otopalatodigital syndrome
- Omphalocele and gastroschisis and associated malformations
- On the phenotypic overlap between "severe" oto-palato digital type II syndrome and Larsen syndrome. Variable manifestation of a single autosomal dominant gene
- Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28
- Oto-palato-digital syndrome, type II--an X-linked skeletal dysplasia
- Oto-palato-digital syndrome, type II: evidence for defective intramembranous ossification
- Oto-palato-digital type II syndrome
- Prenatal ultrasound findings in a fetus with otopalatodigital syndrome type II
- Retinal folds and tracheomalacia in a boy with otopalatodigital syndrome type 2
- The oto-palato-digital syndrome: variable clinical expressions