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2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features

BHY Chung, J Stavropoulos… - American Journal of …, 2011 - Wiley Online Library
We report on a female patient with a de novo interstitial deletion of chromosome region
2q23.1–23.3 identified by array-CGH. She had significant global delay with developmental regression
at age 6 years. She developed seizures at age 3 years with progressive difficulties with ...
Cited by 1 - Related articles - All 4 versions

Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors

CJ Poulton, R Schot, SK Kia, M Jones… - The American Journal of …, 2011 - Elsevier
We describe a syndrome of primary microcephaly with simplified gyral pattern in combination
with severe infantile epileptic encephalopathy and early-onset permanent diabetes in two unrelated
consanguineous families with at least three affected children. Linkage analysis revealed ...

Cdk5rap2 exposes the centrosomal root of microcephaly syndromes.

TL Megraw, JT Sharkey… - Trends in cell biology, 2011 - ncbi.nlm.nih.gov
Autosomal recessive primary microcephaly (MCPH) is characterized by small brain size as a
result of deficient neuron production in the developing cerebral cortex. Although MCPH is a rare
disease, the questions surrounding its etiology strike at the core of stem cell biology. The ...

Microdeletion of 17q22q23. 2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary …

M Nimmakayalu, H Major, V Sheffield… - American Journal of …, 2011 - Wiley Online Library
Manjunath Nimmakayalu, 1 Heather Major, 1 Val Sheffield, 1 Donald H. Solomon, 2 Richard
J. Smith, 2 ... Shivanand R. Patil, 1 and Oleg A. Shchelochkov 1 * ... 1Division of Medical
Genetics, Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, ...
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[HTML] Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay

[HTML] from nih.govM He, LE Kratz, JJ Michel, AN Vallejo… - The Journal of clinical …, 2011 - ncbi.nlm.nih.gov
Defects in cholesterol synthesis result in a wide variety of symptoms, from neonatal lethality to
the relatively mild dysmorphic features and developmental delay found in individuals with
Smith-Lemli-Opitz syndrome. We report here the identification of mutations in sterol-C4- ...
Cited by 1 - Related articles - All 5 versions

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