Results 121 to 130 of about 1,949 (196)

Long-term outcomes in 45,X/46,XY mosaicism: a 30-year retrospective study in Hong Kong. [PDF]

Ann Pediatr Endocrinol Metab
Poon SWY, To SWY, Siu LLP, Cheng SSW, Ho SKL, Pang GSW, So PPL, Tung JYL, Luk HM.   +8 more
europepmc   +1 more source

Tumours in children and adolescents with Turner syndrome and Klinefelter syndrome: a retrospective Chinese cohort study. [PDF]

BMJ Paediatr Open
Wang G, Wang M, Wang J, Zhang Z, Allegaert K, Zhang Y, Luo S, Fang Y, Chen Y, Wei H, Li D.   +10 more
europepmc   +1 more source

Clinical Presentation and Management of Swyer Syndrome: A Case Report. [PDF]

Cureus
Errahali Y, Malad M, Lakssir I, Issouani J, Guerboub AA.   +4 more
europepmc   +1 more source

Congenital nephrotic syndrome in a newborn with glycogen storage disease and Wilms tumor 1 (WT1) mutation. [PDF]

CEN Case Rep
Annicchiarico Petruzzelli L, De Marco O, Improda N, Giannattasio P, Luongo I, Carucci M, Brunetti B, Serio V, Minale B, Malgieri G.   +9 more
europepmc   +1 more source

Discordant Gender Identity and Surgical Goals in Two Adults with Comparable Ambiguous Genitalia: Two Case Reports from a Resource-Limited Setting. [PDF]

Cureus
Ainomugisha B, Kajabwangu R, Byamukama O, Kato KP, Geissbuhler V, Kayondo M.   +5 more
europepmc   +1 more source

Severe Hyperandrogenism Revealing a 46,XY Disorder of Sex Development Due to a Novel NR5A1 Mutation. [PDF]

Cureus
Yakine F, Bouarab I, Alaoui-Inboui FZ, Idrissifawzi F, Slaoui B.   +4 more
europepmc   +1 more source

Swyer syndrome in a Syrian female: A rare case report. [PDF]

J Int Med Res
Alhallak S, Alabed A, Khabazeh A, Alwannous K.   +3 more
europepmc   +1 more source

A novel variant leads to WT1-related nephrotic syndrome and differences of sex development: a case report. [PDF]

Front Pediatr
Gao S, Wang D, Ding X, Bai C, Nie N, Chang H, Zhang R, Liu J, Zhang Q, Liu L, Lin Y.   +10 more
europepmc   +1 more source

Bone Health and Psychological Wellbeing in Turner Syndrome: A Tertiary Healthcare Centre Experience from North India. [PDF]

Indian J Endocrinol Metab
Sah UK, Sudhanshu S, Moirangthem A, Dabadghao P, Bhatia V.   +4 more
europepmc   +1 more source

Prenatal Diagnosis of Turner Syndrome Mosaicism: A Case Report. [PDF]

Cureus
Abulatan I, Mbara NJ, Fakoya AO.
europepmc   +1 more source