Orofaciodigitales Syndrom 04

Thomas S et al. (2012) TCTN3 mutations cause Mohr-Majewski syndrome.

Nevin NC et al. (1992) Orofaciodigital syndrome type IV: report of a patient.

Meinecke P et al. (1990) Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies.

Nevin NC et al. (1989) Orofaciodigital syndrome type IV: report of a patient.

None (1986) The orofaciodigital (OFD) syndromes.

Burn J et al. (1984) Orofaciodigital syndrome with mesomelic limb shortening.

Baraitser M et al. (1983) A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity?

Cooper CP et al. (1982) Lethal short-rib polydactyly syndrome of the Majewski type: a report of three cases.

Adès LC et al. (1994) Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: a new multiple malformation syndrome, or a severe form of oral-facial-digital syndrome type IV?

Digilio MC et al. (1995) Joint dislocation and cerebral anomalies are consistently associated with oral-facial-digital syndrome type IV.

Toriello HV et al. (1997) Six patients with oral-facial-digital syndrome IV: the case for heterogeneity.

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