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UnknownCraniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome).
Background. The orofaciodigital syndromes (OFDS) are a heterogeneous group of syndromes that affect the face, oral cavity, and the digits. OFDS type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital hypertelorism or telecanthus, micrognathia, hypoplastic mandible, and ...
S-EPMC4283451 | biostudies-literature
UnknownNovel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta.
Not available
S-EPMC4264522 | biostudies-literature
UnknownNephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Background/aims

Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is ...
S-EPMC3782194 | biostudies-literature
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