A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case

A Narhi; A Fernandes; S Toiviainen-Salo; J Harris; A McInerney-Leo; S Lazarus; K Avela; EL Duncan

doi:10.1002/ajmg.a.62257

A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case

A Narhi, A Fernandes, S Toiviainen-Salo, J Harris, A McInerney-Leo, S Lazarus, K Avela, EL Duncan

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

Alkuperäiskieli	englanti
Lehti	American Journal of Medical Genetics. Part A
Vuosikerta	185
Numero	8
Sivut	2477-2481
Sivumäärä	5
ISSN	1552-4825
DOI - pysyväislinkit	https://doi.org/10.1002/ajmg.a.62257
Tila	Julkaistu - elok. 2021
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Tieteenalat

3123 Naisten- ja lastentaudit

Pääsy asiakirjaan

10.1002/ajmg.a.62257

A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism First reported caseLopullinen julkaistu versio, 2,22 MB

Siteeraa tätä

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title = "A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case",

keywords = "focal segmental glomerulosclerosis, MCTO, mosaicism, multicentric carpotarsal osteolysis, v&#8208, maf musculoaponeurotic fibrosarcoma oncogene ortholog B (MAFB), MUTATIONS, MAFB, PHENOTYPE, VARIANTS, DOMAIN, 3123 Gynaecology and paediatrics",

author = "A Narhi and A Fernandes and S Toiviainen-Salo and J Harris and A McInerney-Leo and S Lazarus and K Avela and EL Duncan",

year = "2021",

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T1 - A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case

AU - Narhi, A

AU - Fernandes, A

AU - Toiviainen-Salo, S

AU - Harris, J

AU - McInerney-Leo, A

AU - Lazarus, S

AU - Avela, K

AU - Duncan, EL

PY - 2021/8

Y1 - 2021/8

KW - focal segmental glomerulosclerosis

KW - MCTO

KW - mosaicism

KW - multicentric carpotarsal osteolysis

KW - v&#8208

KW - maf musculoaponeurotic fibrosarcoma oncogene ortholog B (MAFB)

KW - MUTATIONS

KW - MAFB

KW - PHENOTYPE

KW - VARIANTS

KW - DOMAIN

KW - 3123 Gynaecology and paediatrics

U2 - 10.1002/ajmg.a.62257

DO - 10.1002/ajmg.a.62257

M3 - Article

SN - 1552-4825

VL - 185

SP - 2477

EP - 2481

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

IS - 8

ER -