共 50 条
- [41] TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology JOURNAL OF DERMATOLOGY, 2020, 47 (07): : 774 - 778
- [42] A novel missense mutation in exon 3 of the TRPS1 gene in a patient with a mild phenotype of tricho-rhino-phalangeal syndrome type 1 European Journal of Dermatology, 2018, 28 : 271 - 272
- [47] A novel mutation in TRPS1 in a patient with tricho-rhino-phalangeal syndrome type 1, accompanied by vesicoureteral reflux European Journal of Dermatology, 2017, 27 : 666 - 667
- [48] TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (10):
- [49] Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 107 (01): : 26 - 29