A case report of Noonan syndrome‐like disorder with loose anagen hair 2 treated with recombinant human growth hormone

Protein phosphatase 1 catalytic subunit beta (PPP1CB) is a disease‐causing gene of Noonan‐like syndrome, which acts via the RAS/MAPK pathway. To date, only 17 patients diagnosed with PPP1CB‐related Noonan‐like syndrome have been reported around the world, with few reports in Asia. Twelve reported pa...

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Veröffentlicht in:	American journal of medical genetics. Part A 2020-08, Vol.182 (8), p.1967-1971
Hauptverfasser:	Zhou, Ping, Zhu, Lin, Fan, Qiongli, Liu, Yongfang, Zhang, Tianxiu, Yang, Ting, Chen, Jie, Cheng, Qian, Li, Tingyu, Chen, Li
Format:	Artikel
Sprache:	eng
Schlagworte:	Case reports Coronary artery disease Growth hormones Hair Heart diseases linear growth MAP kinase Mutation Noonan syndrome‐like disorder with loose anagen hair 2 (NSLH2) Noonan's syndrome Patients Phosphoprotein phosphatase PPP1CB Protein phosphatase recombinant human growth hormone treatment
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