13048_2020_645_MOESM1_ESM.jpg (266.05 kB)

Additional file 1 of NOTCH2 variant D1853H is mutated in two non-syndromic premature ovarian insufficiency patients from a Chinese pedigree

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posted on 2020-04-21, 03:53 authored by Lin Li, Fan Feng, Minying Zhao, Tengyan Li, Wentao Yue, Xu Ma, Binbin Wang, Chenghong Yin

Additional file 1 Fig. S1. The two POI patients are not syndromic POI and do not have acro-osteolysis. A. The two hands of the daughter are normal. B. The foot of the daughter is normal. C. The two hands of the mother are normal. D. The foot of the mother is normal.

Funding

National Natural Science Foundation of China CAMS Innovation Fund for Medical Sciences CAMS Fund for Excellent Young Medical Talents Key Medical Science Research Projects of Hebei Province

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Keywords

Premature ovarian insufficiency NOTCH2 Whole-exome sequencing RNA sequencing Gene ontology Collagen degradation

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CC BY + CC0

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