Discriminative features in three autosomal recessive cutis laxa syndromes: Cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica

10.3390/ijms18030635

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Main Authors:	Kariminejad, A, Afroozan, F, Bozorgmehr, B, Ghanadan, A, Akbaroghli, S, Khorshid, H.R.K, Mojahedi, F, Setoodeh, A, Loh, A, Tan, Y.X, Escande-Beillard, N, Malfait, F, Reversade, B, Gardeitchik, T, Morava, E
Other Authors:	PAEDIATRICS
Format:	Review
Published:	MDPI 2020
Subjects:	autosomal recessive cutis laxa 2a autosomal recessive cutis laxa 2b cataract cognition congenital hip dislocation cutis laxa geroderma osteodysplastica human lipodystrophy long philtrum microcephaly muscle hypotonia osteopenia palpebral fissure phenotype Review short stature wrinkle adult Bone Diseases case report child differential diagnosis dwarfism female infant male preschool child Skin Diseases, Genetic syndrome Adult Child Child, Preschool Cutis Laxa Diagnosis, Differential Dwarfism Female Humans Infant Male Phenotype Syndrome
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/183539
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Institution:	National University of Singapore

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spelling	sg-nus-scholar.10635-1835392024-11-08T22:23:15Z Discriminative features in three autosomal recessive cutis laxa syndromes: Cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica Kariminejad, A Afroozan, F Bozorgmehr, B Ghanadan, A Akbaroghli, S Khorshid, H.R.K Mojahedi, F Setoodeh, A Loh, A Tan, Y.X Escande-Beillard, N Malfait, F Reversade, B Gardeitchik, T Morava, E PAEDIATRICS autosomal recessive cutis laxa 2a autosomal recessive cutis laxa 2b cataract cognition congenital hip dislocation cutis laxa geroderma osteodysplastica human lipodystrophy long philtrum microcephaly muscle hypotonia osteopenia palpebral fissure phenotype Review short stature wrinkle adult Bone Diseases case report child cutis laxa differential diagnosis dwarfism female infant male phenotype preschool child Skin Diseases, Genetic syndrome Adult Bone Diseases Child Child, Preschool Cutis Laxa Diagnosis, Differential Dwarfism Female Humans Infant Male Phenotype Skin Diseases, Genetic Syndrome 10.3390/ijms18030635 International Journal of Molecular Sciences 18 3 635 2020-11-17T06:34:21Z 2020-11-17T06:34:21Z 2017 Review Kariminejad, A, Afroozan, F, Bozorgmehr, B, Ghanadan, A, Akbaroghli, S, Khorshid, H.R.K, Mojahedi, F, Setoodeh, A, Loh, A, Tan, Y.X, Escande-Beillard, N, Malfait, F, Reversade, B, Gardeitchik, T, Morava, E (2017). Discriminative features in three autosomal recessive cutis laxa syndromes: Cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica. International Journal of Molecular Sciences 18 (3) : 635. ScholarBank@NUS Repository. https://doi.org/10.3390/ijms18030635 1661-6596 https://scholarbank.nus.edu.sg/handle/10635/183539 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ MDPI Unpaywall 20201031
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	autosomal recessive cutis laxa 2a autosomal recessive cutis laxa 2b cataract cognition congenital hip dislocation cutis laxa geroderma osteodysplastica human lipodystrophy long philtrum microcephaly muscle hypotonia osteopenia palpebral fissure phenotype Review short stature wrinkle adult Bone Diseases case report child cutis laxa differential diagnosis dwarfism female infant male phenotype preschool child Skin Diseases, Genetic syndrome Adult Bone Diseases Child Child, Preschool Cutis Laxa Diagnosis, Differential Dwarfism Female Humans Infant Male Phenotype Skin Diseases, Genetic Syndrome
spellingShingle	autosomal recessive cutis laxa 2a autosomal recessive cutis laxa 2b cataract cognition congenital hip dislocation cutis laxa geroderma osteodysplastica human lipodystrophy long philtrum microcephaly muscle hypotonia osteopenia palpebral fissure phenotype Review short stature wrinkle adult Bone Diseases case report child cutis laxa differential diagnosis dwarfism female infant male phenotype preschool child Skin Diseases, Genetic syndrome Adult Bone Diseases Child Child, Preschool Cutis Laxa Diagnosis, Differential Dwarfism Female Humans Infant Male Phenotype Skin Diseases, Genetic Syndrome Kariminejad, A Afroozan, F Bozorgmehr, B Ghanadan, A Akbaroghli, S Khorshid, H.R.K Mojahedi, F Setoodeh, A Loh, A Tan, Y.X Escande-Beillard, N Malfait, F Reversade, B Gardeitchik, T Morava, E Discriminative features in three autosomal recessive cutis laxa syndromes: Cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica
description	10.3390/ijms18030635
author2	PAEDIATRICS
author_facet	PAEDIATRICS Kariminejad, A Afroozan, F Bozorgmehr, B Ghanadan, A Akbaroghli, S Khorshid, H.R.K Mojahedi, F Setoodeh, A Loh, A Tan, Y.X Escande-Beillard, N Malfait, F Reversade, B Gardeitchik, T Morava, E
format	Review
author	Kariminejad, A Afroozan, F Bozorgmehr, B Ghanadan, A Akbaroghli, S Khorshid, H.R.K Mojahedi, F Setoodeh, A Loh, A Tan, Y.X Escande-Beillard, N Malfait, F Reversade, B Gardeitchik, T Morava, E
author_sort	Kariminejad, A
title	Discriminative features in three autosomal recessive cutis laxa syndromes: Cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica
title_short	Discriminative features in three autosomal recessive cutis laxa syndromes: Cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica
title_full	Discriminative features in three autosomal recessive cutis laxa syndromes: Cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica
title_fullStr	Discriminative features in three autosomal recessive cutis laxa syndromes: Cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica
title_full_unstemmed	Discriminative features in three autosomal recessive cutis laxa syndromes: Cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica
title_sort	discriminative features in three autosomal recessive cutis laxa syndromes: cutis laxa iia, cutis laxa iib, and geroderma osteoplastica
publisher	MDPI
publishDate	2020
url	https://scholarbank.nus.edu.sg/handle/10635/183539
_version_	1821233378293186560

Discriminative features in three autosomal recessive cutis laxa syndromes: Cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica

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