Disease: Oto-Palato-digital syndrome type 1
- A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation
- A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation
- A STUDY OF CONSTITUTIONAL NANISM. II. RUBINSTEIN AND TAYBI SYNDROME
- Clinical Experience of Treatment of Facial Malformations in Oto-Palato-Digital Syndrome: A Familial Patient
- Infant with manifestations of oto-palato-digital syndrome type II and of Melnick-Needles syndrome
- Omphalocele and gastroschisis and associated malformations
- Oto-palato-digital (Taybi) syndrome
- Oto-palato-digital syndrome type II
- Otopalatodigital syndrome type I: New temporal bone CT-scan sign in a case with a de novo novel mutation
- Retinal folds and tracheomalacia in a boy with otopalatodigital syndrome type 2
- The oto-palato-digital syndrome: variable clinical expressions
- Unexpected brainstem compression following routine surgery in a child with oto-palato-digital syndrome