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Your search for Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome AND humans[mesh] AND review[publication type] retrieved no results
Alopecia/mental retardation syndrome.
Hannig VL, Tiller GE. Hannig VL, et al. Am J Med Genet. 1995 Aug 28;58(2):123-4. doi: 10.1002/ajmg.1320580206. Am J Med Genet. 1995. PMID: 8533801 Review.
We report on an African-American patient with alopecia universalis, microcephaly, hypogonadism, and mental and growth retardation, and compare his phenotype to others with recessive alopecia/mental retardation syndromes in the literature. ...
We report on an African-American patient with alopecia universalis, microcephaly, hypogonadism, and mental and growth retardat …
Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature.
Agopiantz M, Corbonnois P, Sorlin A, Bonnet C, Klein M, Hubert N, Pascal-Vigneron V, Jonveaux P, Cuny T, Leheup B, Weryha G. Agopiantz M, et al. J Endocrinol Invest. 2014 Jan;37(1):1-7. doi: 10.1007/s40618-013-0001-5. Epub 2014 Jan 8. J Endocrinol Invest. 2014. PMID: 24464444 Review.
First described in 1983, Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive genetic disorder that leads to a spectrum of hypogonadal symptoms in adolescence. ...Of 72 patients from 29 families with documented WSS who were identified, 39 had undergone genetic tes …
First described in 1983, Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive genetic disorder that leads to a spectrum of h …
Expanding on the phenotypic spectrum of Woodhouse-Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review.
Ali R, Al-Dewik N, Mohammed S, Elfituri M, Agouba S, Musa S, Mahmoud L, Almulla M, El-Akouri K, Mohd H, Bux R, Almulla H, Othman A, Al-Mesaifri F, Shahbeck N, Al-Muriekhi M, Khalifa A, Al-Sulaiman R, Ben-Omran T. Ali R, et al. Am J Med Genet A. 2022 Jan;188(1):116-129. doi: 10.1002/ajmg.a.62501. Epub 2021 Sep 30. Am J Med Genet A. 2022. PMID: 34590781 Review.
Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine and ectodermal disorder caused by variants in the DCAF17 gene. ...Neurological manifestations were overlapping among patients with intellectual disability (ID) being the most common …
Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine and ectodermal disorder caused by variants in the DCAF17 …
A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature.
Kurnaz E, Türkyılmaz A, Yaralı O, Demir B, Çayır A. Kurnaz E, et al. J Pediatr Endocrinol Metab. 2019 Nov 26;32(11):1287-1293. doi: 10.1515/jpem-2019-0173. J Pediatr Endocrinol Metab. 2019. PMID: 31472064 Review.
Alopecia, hypogonadism, loss of hearing, hypothyroidism, diabetes mellitus (DM) and neurological disorders are the components of this syndrome. The syndrome is caused by homozygous or compound heterozygous mutations in DCAF17, and has recently been imp
Alopecia, hypogonadism, loss of hearing, hypothyroidism, diabetes mellitus (DM) and neurological disorders are the components
A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.
Salomão RP, Pedroso JL, Gama MT, Dutra LA, Maciel RH, Godeiro-Junior C, Chien HF, Teive HA, Cardoso F, Barsottini OG. Salomão RP, et al. Arq Neuropsiquiatr. 2016 Jul;74(7):587-96. doi: 10.1590/0004-282X20160080. Arq Neuropsiquiatr. 2016. PMID: 27487380 Free article. Review.
The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome
The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegene …
Primary hypogonadism, partial alopecia, and Mullerian hypoplasia: report of a third family and review.
Tatar A, Ocak Z, Tatar A, Yesilyurt A, Borekci B, Oztas S. Tatar A, et al. Am J Med Genet A. 2009 Mar;149A(3):501-4. doi: 10.1002/ajmg.a.32645. Am J Med Genet A. 2009. PMID: 19213036 Review.
Two sisters presented with partial alopecia, primary hypergonadotropic hypogonadism and Mullerian hypoplasia associated with mild mental retardation, microcephaly, flat occiput, sparse eyebrows, absence of breast tissue, absent ovaries, mild-moderate dorsal kyphosis …
Two sisters presented with partial alopecia, primary hypergonadotropic hypogonadism and Mullerian hypoplasia associated with m …
Zinc and copper deficiency, with particular reference to parenteral nutrition.
Tasman-Jones C, Kay RG, Lee SP. Tasman-Jones C, et al. Surg Annu. 1978;10:23-52. Surg Annu. 1978. PMID: 416508 Review.
Trace mineral metabolism has reached a new importance and received a new stimulus with the development of total intravenous feeding. A syndrome of acute zinc deficiency has been described in patients receiving intravenous feeding with pure amino acid infusates. Although th …
Trace mineral metabolism has reached a new importance and received a new stimulus with the development of total intravenous feeding. A sy