Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders

↓ Direkt till sidans innehåll
↓ Direkt till sidans sekundära innehåll (sidomenyn)

Sökning: WFRF:(NORDGREN J) > (2020-2024) > Al-Gazali Skeletal ...

LIBRIS Formathandbok (Information om MARC21)

Fältnamn	Indikatorer	Metadata
000		04928naa a2200757 4500
001		oai:gup.ub.gu.se/326293
003		SwePub
008		240910s2023 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:prod.swepub.kib.ki.se:152339878
024	7	a https://gup.ub.gu.se/publication/3262932 URI
024	7	a https://doi.org/10.1002/jbmr.47992 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:1523398782 URI
040		a (SwePub)gud (SwePub)ki
041		a eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Batkovskyte, D.u Karolinska Institutet4 aut
245	1 0	a Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders
264		c 2023-03-27
264	1	b Wiley,c 2023
520		a Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356), also called dysplastic cortical hyperostosis, Al-Gazali type, is an ultra-rare disorder previously reported in only three unrelated individuals. The genetic etiology for Al-Gazali skeletal dysplasia has up until now been unknown. Through international collaborative efforts involving seven clinical centers worldwide, a cohort of nine patients with clinical and radiographic features consistent with short-limb skeletal dysplasia Al-Gazali type was collected. The affected individuals presented with moderate intrauterine growth restriction, relative macrocephaly, hypertrichosis, large anterior fontanelle, short neck, short and stiff limbs with small hands and feet, severe brachydactyly, and generalized bone sclerosis with mild platyspondyly. Biallelic disease-causing variants in ADAMTSL2 were detected using massively parallel sequencing (MPS) and Sanger sequencing techniques. Six individuals were compound heterozygous and one individual was homozygous for pathogenic variants in ADAMTSL2. In one of the families, pathogenic variants were detected in parental samples only. Overall, this study sheds light on the genetic cause of Al-Gazali skeletal dysplasia and identifies it as a semi-lethal part of the spectrum of ADAMTSL2-related disorders. Furthermore, we highlight the importance of meticulous analysis of the pseudogene region of ADAMTSL2 where disease-causing variants might be located.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Endokrinologi och diabetes0 (SwePub)302052 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Endocrinology and Diabetes0 (SwePub)302052 hsv//eng
653		a skeletal dysplasia
653		a adamtsl2
653		a neonatal lethal
653		a geleophysic dysplasia
653		a al-gazali skeletal dysplasia
653		a bone sclerosis
700	1	a McKenzie, F.4 aut
700	1	a Taylan, F.u Karolinska Institutet4 aut
700	1	a Simsek-Kiper, P. O.4 aut
700	1	a Nikkel, S. M.4 aut
700	1	a Ohashi, H.4 aut
700	1	a Stevenson, R. E.4 aut
700	1	a Ha, T.4 aut
700	1	a Cavalcanti, D. P.4 aut
700	1	a Miyahara, H.4 aut
700	1	a Chagin, Andrei S.,d 1976u Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Centre for Bone and Arthritis Research,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition4 aut0 (Swepub:gu)xchaga
700	1	a Aguirre, M. A.4 aut
700	1	a Akcoeren, Z.4 aut
700	1	a Utine, G. E.u Karolinska Institutet4 aut
700	1	a Chiu, T.4 aut
700	1	a Shimizu, K.4 aut
700	1	a Hammarsjoe, A.u Karolinska Institutet4 aut
700	1	a Boduroglu, K.4 aut
700	1	a Moore, H. W.4 aut
700	1	a Louie, R. J.4 aut
700	1	a Arts, P.4 aut
700	1	a Nordgren, Ann,d 1964u Karolinska Institutet4 aut0 (Swepub:gu)xnannb
700	1	a Babic, M.4 aut
700	1	a Jackson, M. R.4 aut
700	1	a Papadogiannakis, N.u Karolinska Institutet4 aut
700	1	a Lindstrand, A.u Karolinska Institutet4 aut
700	1	a Nordgren, Ann,d 19644 aut
700	1	a Barnett, C. P.4 aut
700	1	a Scott, H. S.4 aut
700	1	a Chagin, Andrei S.,d 1976u Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Centre for Bone and Arthritis Research,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition4 aut0 (Swepub:gu)xchaga
700	1	a Nishimura, G.4 aut
700	1	a Grigelioniene, G.4 aut
710	2	a Karolinska Institutetb Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition4 org
773	0	t Journal of Bone and Mineral Researchd : Wileyg 38:5, s. 692-706q 38:5<692-706x 0884-0431x 1523-4681
856	4 8	u https://gup.ub.gu.se/publication/326293
856	4 8	u https://doi.org/10.1002/jbmr.4799
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:152339878

Hitta via bibliotek

Journal of Bone and Mineral Research (Sök värdpublikationen i LIBRIS)

Till lärosätets databas

Hitta mer i SwePub

Om ämnet

MEDICIN OCH HÄLSOVETENSKAP: MEDICIN OCH HÄLS ...; och Klinisk medicin; och Endokrinologi oc ...

Artiklar i publikationen: Journal of Bone ...

Av lärosätet: Göteborgs universitet; Karolinska Institutet

Sök utanför SwePub

Sök vidare i:: Google; Google Book Search; Google Scholar

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

LIBRIS.kb.se