Chondrodysplasia-Pseudohermaphroditism Syndrome
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1430-1
Reference12 articles.
1. Abdel-Salam GMH, Mazen I, Eid M, Ewida N, Shaheen R, Alkuraya FS (2019) Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia. Am J Med Genet A 179(6):1053–1057. https://doi.org/10.1002/ajmg.a.61133
2. Boczkowski K (1974) Management and treatment of male pseudohermaphrodites. In: James VHT, Serio M, Martini L (eds) The endocrine function of the human testis. Academic Press, pp 247–256. https://doi.org/10.1016/B978-0-12-380102-9.50019-6
3. Callier P, Calvel P, Matevossian A, Makrythanasis P, Bernard P, Kurosaka H, Vannier A, Thauvin-Robinet C, Borel C, Mazaud-Guittot S, Rolland A, Desdoits-Lethimonier C, Guipponi M, Zimmermann C, Stévant I, Kuhne F, Conne B, Santoni F, Lambert S et al (2014) Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling. PLoS Genet 10(5):e1004340. https://doi.org/10.1371/journal.pgen.1004340
4. Canto P, Soderlund D, Reyes E, Mendez J (2004) Mutations in the desert hedgehog (DHH) gene in patients with 46, XY complete pure gonadal dysgenesis. J Clin Endocrinol Metabol 89(9):4480–4483
5. El-Sobky T, Elsayed S (2021) Skeletal radiology following hematopoietic stem cell transplantation in infantile osteopetrosis: an overlooked assessment tool. Bol Med Hosp Infant Mex 78:1–2. https://doi.org/10.24875/BMHIM.21000048
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