Craniometaphyseal dysplasia is a rare skeletal disorder that results from a mutation in the ANKH or GJA1 genes. The condition is characterized abnormal facial features, impairment of cranial nerves, and malformation of the long bones in the limbs.[1]
^"Craniometaphyseal Dysplasia".
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Craniometaphysealdysplasia is a rare skeletal disorder that results from a mutation in the ANKH or GJA1 genes. The condition is characterized abnormal...
It is probably a variant of the autosomal recessive type of CraniometaphysealDysplasia. Manifestations include enlarged viscera, hepatomegaly, diabetes...
stress. Mutations in this gene have been associated with ODDD; craniometaphysealdysplasia; sudden infant death syndrome, which is linked to cardiac arrhythmia;...
progressive homolog (mouse)". GeneReviews/NCBI/NIH/UW entry on CraniometaphysealDysplasia Human ANKH genome location and ANKH gene details page in the...
Deletion/duplication analysis. Pyle disease may be confused with craniometaphysealdysplasia. The two, however, are clinically, radiographically, and genetically...
3) is thought to be a polysaccharide exporter. Craniometaphysealdysplasia (CMD) is a bone dysplasia characterized by overgrowth and sclerosis of the...
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