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6. Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken. Pauli RM; Modaff P; Sipes SL; Whyte MP Am J Med Genet; 1999 Oct; 86(5):434-8. PubMed ID: 10508985 [TBL] [Abstract][Full Text] [Related]
7. Prenatal genetic diagnosis of severe perinatal (lethal) hypophosphatasia. Watanabe A; Yamamasu S; Shinagawa T; Suzuki Y; Miyake H; Takeshita T; Orimo H; Shimada T J Nippon Med Sch; 2007 Feb; 74(1):65-9. PubMed ID: 17384481 [TBL] [Abstract][Full Text] [Related]
8. Congenital bowing of long bones: prenatal ultrasound findings and diagnostic dilemmas. Farra C; Piquet C; Guillaume M; D'Ercole C; Philip N Fetal Diagn Ther; 2002; 17(4):236-9. PubMed ID: 12065952 [TBL] [Abstract][Full Text] [Related]
10. Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign. Garel C; Dhouib A; Sileo C; Cormier-Daire V; Ducou le Pointe H Pediatr Radiol; 2014 Mar; 44(3):344-8. PubMed ID: 24121766 [TBL] [Abstract][Full Text] [Related]
11. Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene. Sawai H; Kanazawa N; Tsukahara Y; Koike K; Udagawa H; Koyama K; Mornet E Prenat Diagn; 2003 Sep; 23(9):743-6. PubMed ID: 12975786 [TBL] [Abstract][Full Text] [Related]
12. Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report. Fukushima K; Kawai-Kowase K; Yonemoto Y; Fujiwara M; Sato H; Sato M; Kubota T; Ozono K; Tamura J J Med Case Rep; 2019 Apr; 13(1):101. PubMed ID: 31014398 [TBL] [Abstract][Full Text] [Related]
14. Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity. Report of the clinical and radiological findings in two siblings. Rezza E; Iannaccone G; Lendvai D Pediatr Radiol; 1984; 14(5):323-7. PubMed ID: 6472918 [TBL] [Abstract][Full Text] [Related]
15. Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling. Simon-Bouy B; Taillandier A; Fauvert D; Brun-Heath I; Serre JL; Armengod CG; Bialer MG; Mathieu M; Cousin J; Chitayat D; Liebelt J; Feldman B; Gérard-Blanluet M; Körtge-Jung S; King C; Laivuori H; Le Merrer M; Mehta S; Jern C; Sharif S; Prieur F; Gillessen-Kaesbach G; Zankl A; Mornet E Prenat Diagn; 2008 Nov; 28(11):993-8. PubMed ID: 18925618 [TBL] [Abstract][Full Text] [Related]
16. Asfotase alfa has a limited effect in improving the bowed limbs in perinatal benign hypophosphatasia: A case report. Matsushita M; Mishima K; Nagata T; Kamiya Y; Imagama S; Kitoh H Clin Pediatr Endocrinol; 2021; 30(1):53-56. PubMed ID: 33446953 [TBL] [Abstract][Full Text] [Related]
17. Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images. Sinico M; Levaillant JM; Vergnaud A; Blondeau JR; Encha-Razavi F; Mornet E; Le Merrer M; Gerard-Blanluet M Prenat Diagn; 2007 Mar; 27(3):222-7. PubMed ID: 17238218 [TBL] [Abstract][Full Text] [Related]
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