Clinical Dysmorphology
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0.82
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#1Özlem Özkale Yavuz (Hacettepe University)H-Index: 1
Last. Ustun AydingozH-Index: 20
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#1Shuqin Xu (HZAU: Huazhong Agricultural University)
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Primary autosomal recessive microcephaly 5 (MCPH5) is a rare neurodevelopmental disorder with a relatively high incidence in regions where consanguineous marriage is widely practiced; So far, only a few MCPH5 cases have been reported from China. Here, we report clinical and molecular characteristics of two Chinese MCPH5 patients, a 24-year-old woman proband and her brother, a 19-year-old man, from a nonconsanguineous family. Main manifestations in the proband were small head circumference, prema...
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#1José Sá Silva (University of Porto)
#2José AlvesH-Index: 1
Last. Cristina GarridoH-Index: 3
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#1Sharon Ocansey (St. George's University)
Last. Meriel McEntagartH-Index: 28
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DNAJC3, a co-chaperone of BiP, is a member of the heat shock protein family. These proteins are produced in the endoplasmic reticulum (ER) to counter cell stress resulting from healthy functional protein processing. Dysregulation of unfolded proteins within the ER is implicated as a mechanism of genetic disease. Examples include Marinesco-Sjogren and Wolcott-Rallison syndromes that share similar clinical features, manifesting neurodegenerative disease and endocrine dysfunction. Recently, loss of...
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