Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder
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DOI: 10.1002/humu.24333
Abstract: A proper interaction between muscle‐derived collagen XXV and its motor neuron‐derived receptors protein tyrosine phosphatases σ and δ (PTP σ/δ) is indispensable for intramuscular motor innervation. Despite this, thus far, pathogenic recessive variants in the… read more here.
Keywords: congenital cranial; recessive variants; cranial dysinnervation; ocular congenital ... See more keywords