Absence of mutations in <it>NR2E1 </it>and <it>SNX3 </it>in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes

• Main Authors: Simpson Elizabeth M (Author), Schwartz Charles E (Author), Slavotinek Anne (Author), Morgan Chad T (Author), Everman David B (Author), Kumar Ravinesh A (Author)
• Format: Book
• Published: BMC, 2007-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>A disruption of sorting nexin 3 (<it>SNX3</it>) on 6q21 was previously reported in a patient with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and t(6;13)(q21;q12) but no <it>SNX3 </it>mu...