Deletion 16p13.11 uncovers <i>NDE1</i> mutations on the non‐deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

Deletions of 16p13.11 have been associated with a variety of phenotypes, and have also been found in normal individuals. We report on two unrelated patients with severe microcephaly, agenesis of the corpus callosum, scalp rugae, and a fetal brain disruption (FBD)-like phenotype with inherited deleti...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Alex R. Paciorkowski, Kim M. Keppler‐Noreuil, Luther K. Robinson, Christopher T. Sullivan, Samin A. Sajan, Susan L. Christian, Polina Bukshpun, Stacy Gabriel, Joseph G. Gleeson, Elliott H. Sherr, William B. Dobyns
स्वरूप: Artigo
भाषा:अंग्रेज़ी
प्रकाशित: 2013
ऑनलाइन पहुंच:https://doi.org/10.1002/ajmg.a.35969
टैग: टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!