Search Results - "Griffis, Cristin"

On the spectrum of limb-body wall complex, exstrophy of the cloaca, and urorectal septum malformation sequence by Heyroth-Griffis, Cristin A., Weaver, David D., Faught, Philip, Bellus, Gary A., Torres-Martinez, Wilfredo

“…The limb‐body wall complex (LBWC) is characterized by abdominal wall and limb defects, exstrophy of the cloaca (EC) by lack of closure of the lower abdominal…”
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Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia by Deml, B., Reis, L.M., Maheshwari, M., Griffis, C., Bick, D., Semina, E.V.

“…Anophthalmia/microphthalmia (A/M) is a developmental ocular malformation defined as complete absence or reduction in size of the eye. A/M is a heterogenous…”
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