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SM Maricich, KA Aqeeb, Y Moayedi… - Journal of Child …, 2011 - jcn.sagepub.com
Abstract The pontocerebellar hypoplasias are a heterogeneous group of rare and devastating
conditions characterized by multiple structural abnormalities of the ventral pons, inferior
olive, and cerebellum. Here, we briefly review these conditions and discuss genes ...
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JJ Barrott, GM Cash, AP Smith… - Proceedings of the …, 2011 - National Acad Sciences
The Drosophila porcupine gene is required for secretion of wingless and other Wnt proteins,
and sporadic mutations in its unique human ortholog, PORCN, cause a pleiotropic X-linked dominant
disorder, focal dermal hypoplasia (FDH, also known as Goltz syndrome). We generated a ...
J Valero, S Blaser, BC Papsin, AL James… - Ear and …, 2011 - journals.lww.com
Objectives: Hypoplasia of the auditory nerve (AN) refers to significant narrowing of the VIIIth cranial
nerve which could compromise stimulation of the nerve by electrical pulses delivered from a
cochlear implant (CI), thereby hindering activity in other parts of the auditory pathways. To ...
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Y Namavar, PG Barth, PR Kasher, F van Ruissen… - Brain, 2011 - Oxford Univ Press
Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders
with prenatal onset. The common characteristics are cerebellar hypoplasia with variable atrophy
of the cerebellum and the ventral pons. Supratentorial involvement is reflected by variable ...
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MA de la Fuente, M Recher, NL Rider… - Journal of Allergy and …, 2011 - Elsevier
Cartilage-hair hypoplasia (CHH) is characterized by metaphyseal dysplasia, bone marrow
failure, increased risk of malignancies, and a variable degree of immunodeficiency. CHH is caused
by mutations in the RNA component of the mitochondrial RNA processing (RMRP) ...
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