All individuals with variants in gene LSS

15 entries on 1 page. Showing entries 1 - 15.
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00225485 30401459-FamHSPatII1/II2/III2 PubMed: Romano 2018, Journal: Romano 2018 3-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives F;M - Afghanistan - - - - - HYPT see paper; …, progressive scalp/body hair loss 2 4 Johan den Dunnen
00225486 30401460-FamA PubMed: Romano 2018, Journal: Romano 2018 2-generation family, affected sisters, unaffected heterozygous carrier parents F - Germany Arab - - - - HYPT see paper; …, progressive scalp/body hair loss 1 2 Johan den Dunnen
00225487 30401460-FamB PubMed: Romano 2018, Journal: Romano 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - Switzerland - - - - - HYPT see paper; …, progressive scalp/body hair loss 2 2 Johan den Dunnen
00225488 30401459-FamHSPatIII3 PubMed: Romano 2018, Journal: Romano 2018 - F no Afghanistan - - - - - HYPT - 1 1 Johan den Dunnen
00451687 patient PubMed: Elaraby 2022, Journal: Elaraby 2022 4-generation family, 3 affected sibs (2F, fetus) F yes Egypt - - - - - APMR see paper; ...,respiratory distress; complete hair loss scalp, eyelashes, eyebrows; microcephalic (OFC -2.3 SD), normal weight, normal height; developmental delay; facial dysmorphism; short stature; growth retardation; umbilical hernia; hyperextensibility joints; tooth mineralization defect; dental deep overbite 1 3 Nesma M. Elaraby
00465639 22021 - - - - China - - - - - HYPT14 - 1 1 Min Peng
00465640 23012 - - - - China - - - - - HYPT14 - 2 1 Min Peng
00465641 23018 - - - - China - - - - - HYPT14 - 2 1 Min Peng
00465642 24012 - - - - China - - - - - HYPT14 - 2 1 Min Peng
00468325 Fam34Pat4881 PubMed: Guo 2025 patient, no family history M - China - - - - - CTRCT see paper; ..., nuclear cataract; nystagmus; 12y-surgery 2 1 Johan den Dunnen
00468486 Pat45 PubMed: Wang 2024 patient, no family history F - China - - - - - CTRCT nuclear cataract; symmetrical opacities; congenital alopecia，sparse and brittle eyebrows, sparse and thinned eyelashes, sparse hair on the extremities, and an absence of axillary and pubic hair 2 1 Johan den Dunnen
00468487 Pat46 PubMed: Wang 2024 patient, no family history M - China - - - - - CTRCT nuclear cataract; symmetrical opacities; congenital alopecia，sparse and brittle eyebrows, sparse and thinned eyelashes, sparse hair on the extremities, and an absence of axillary and pubic hair 2 1 Johan den Dunnen
00468488 Pat47 PubMed: Wang 2024 patient, no family history F - China - - - - - CTRCT nuclear cataract; symmetrical opacities; congenital alopecia，sparse and brittle eyebrows, sparse and thinned eyelashes, sparse hair on the extremities, and an absence of axillary and pubic hair 2 1 Johan den Dunnen
00468489 Pat48 PubMed: Wang 2024 patient, no family history F - China - - - - - CTRCT nuclear cataract; symmetrical opacities; congenital alopecia，sparse and brittle eyebrows, sparse and thinned eyelashes, sparse hair on the extremities, and an absence of axillary and pubic hair 2 1 Johan den Dunnen
00468490 Pat49 PubMed: Wang 2024 family F - China - - - - - CTRCT nuclear cataract; symmetrical opacities; congenital alopecia，sparse and brittle eyebrows, sparse and thinned eyelashes, sparse hair on the extremities, and an absence of axillary and pubic hair 2 2 Johan den Dunnen
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