טוען...
Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral–facial–digital overlap syndrome
Disruption of normal ciliary function results in a range of diseases collectively referred to as ciliopathies. Here we report a child with a phenotype that overlapped with Joubert, oral–facial–digital, and Pallister–Hall syndromes including brain, limb, and craniofacial anomalies. We performed exome...
שמור ב:
| הוצא לאור ב: | Cold Spring Harb Mol Case Stud |
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| Main Authors: | , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Cold Spring Harbor Laboratory Press
2017
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5495032/ https://ncbi.nlm.nih.gov/pubmed/28679688 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a001321 |
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