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hypoparathyroidism-retardation-dysmorphism syndrome相关文献:
Hypoparathyroidism-retardation-dysmorphism syndrome.
Kumar KJ, Kumar HC, Manjunath VG, Mamatha S.
Indian J Hum Genet. 2013 Jul;19(3):363-5. doi: 10.4103/0971-6866.120814.
PMID:24339556
Hypoparathyroidism-retardation-dysmorphism syndrome-Clinical insights from a large longitudinal cohort in a single medical center.
David O, Agur R, Novoa R, Shaki D, Walker D, Carmon L, Eskin-Schwartz M, Birk OS, Ling G, Schreiber R, Loewenthal N, Haim A, Hershkovitz E.
Front Pediatr. 2022 Jul 22;10:916679. doi: 10.3389/fped.2022.916679. eCollection 2022.
PMID:35935360
Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency.
David O, Kristal E, Ling G, Broides A, Hadad N, Shubinsky G, Nahum A.
J Clin Immunol. 2023 Feb;43(2):350-357. doi: 10.1007/s10875-022-01380-9. Epub 2022 Oct 18.
PMID:36258138
Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review.
Courtens W, Wuyts W, Poot M, Szuhai K, Wauters J, Reyniers E, Eleveld M, Diaz G, Nöthen MM, Parvari R.
Am J Med Genet A. 2006 Mar 15;140(6):611-7. doi: 10.1002/ajmg.a.31122.
PMID:16470743
Multiple Endocrine Deficiencies are Common in Hypoparathyroidism-Retardation-Dysmorphism Syndrome.
David O, Barash G, Agur R, Loewenthal N, Carmon L, Shaki D, Walker D, Novoa R, Haim A, Hershkovitz E.
J Clin Endocrinol Metab. 2021 Jan 23;106(2):e907-e916. doi: 10.1210/clinem/dgaa807.
PMID:33150438
Congenital neuroblastoma in a neonate with hypoparathyroidism-retardation-dysmorphism syndrome.
Golan-Tripto I, Ling E, Hershkovitz E, Fruchtman Y, Hazan G.
Clin Dysmorphol. 2020 Jan;29(1):46-48. doi: 10.1097/MCD.0000000000000286.
PMID:31205051
A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review.
Ryabets-Lienhard A, Issaranggoon Na Ayuthaya S, Graham JM, Pitukcheewanont P.
Am J Med Genet A. 2018 Aug;176(8):1768-1772. doi: 10.1002/ajmg.a.38851. Epub 2018 Jul 28.
PMID:30055029
Endocrinological Manifestations of Sanjad-Sakati Syndrome.
Bashar M, Taimur M, Amreek F, Sayeed KA, Tahir A.
Cureus. 2020 Jun 22;12(6):e8770. doi: 10.7759/cureus.8770.
PMID:32714707
Corneal opacification in Sanjad-Sakati syndrome.
Elhusseiny AM, Saeed HN.
Am J Ophthalmol Case Rep. 2022 Mar 25;26:101503. doi: 10.1016/j.ajoc.2022.101503. eCollection 2022 Jun.
PMID:35355856
Genetics of hypoparathyroidism and pseudohypoparathyroidism.
Brandi ML.
J Endocrinol Invest. 2011 Jul;34(7 Suppl):27-34.
PMID:21985977
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