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ArticlesPeer ReviewedFull Text
Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis
Author / Creator:Huybrechts, Yentl ; Boudin, Eveline ; Hendrickx, Gretl ; Steenackers, Ellen ; Hamdy, Neveen ; Mortier, Geert ; Martínez Díaz-Guerra, Guillermo ; Bracamonte, Milagros Sierra ; Appelman-Dijkstra, Natasha M. ; Van Hul, Wim
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-12, Vol.13 (1), p.80
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ArticlesPeer ReviewedFull Text
The Greig cephalopolysyndactyly syndrome
Author / Creator:Biesecker, Leslie G
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2008-04, Vol.3 (1), p.10-10, Article 10
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ArticlesPeer ReviewedFull Text
The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly
Author / Creator:Debeer, P ; Schoenmakers, E F P M ; Twal, W O ; Argraves, W S ; De Smet, L ; Fryns, J-P ; Van de Ven, W J M
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2002-02, Vol.39 (2), p.98-104
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ArticlesPeer ReviewedFull Text
Amniotic band syndrom at Bobo Dioulasso university teaching hospital (Burkina-Faso): about two cases
Author / Creator:Zaré, Cyprien ; Traoré, Ibrahim Alain ; Dakouré, Patrick Wendpuoiré Hamed ; Gandéma, Salif ; Sano, Bakary Gustave ; Bénao, Lazard Bouma ; Belemlilga, Hermann ; Yabré, Nassirou
Publisher:Uganda: PAMJ-CEPHRI Pan African Medical Journal - Center for Public health Research and Information
Journal title:The Pan African medical journal, 2015-10, Vol.22, p.187-187
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ArticlesPeer ReviewedFull Text
Congenital cytomegalovirus infection and finger anomaly
Author / Creator:Işikay, Sedat ; Yilmaz, Kutluhan
Publisher:England: BMJ Publishing Group LTD
Journal title:BMJ case reports, 2013-06, Vol.2013, p.bcr2013009486
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ArticlesPeer ReviewedFull Text
Cenani–Lenz syndrome-like limb anomaly with more severe involvement of left side
Author / Creator:Ahmed, Saleem ; Al-Aama, Jumana Yousef
Publisher:England: BMJ Publishing Group LTD
Journal title:BMJ case reports, 2012, Vol.2012, p.bcr0120125634
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ArticlesPeer ReviewedFull Text
An 8-month-old boy with cleft palate, microcephaly, developmental delay, and syndactyly. Smith-Lemili-Opitz syndrome
Author / Creator:Angle, Brad
Publisher:United States
Journal title:Pediatric annals, 2007-05, Vol.36 (5), p.282-283
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ArticlesFull Text
Fanconi's anemia
Author / Creator:Rao, Gnaneshwar A
Publisher:India: Medknow Publications on behalf of The Indian Association of Dermatologists, Venereologists and Leprologists (IADVL)
Journal title:Indian journal of dermatology, venereology, and leprology, 2008-07, Vol.74 (4), p.398
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ArticlesPeer ReviewedFull Text
A case of angle-closure glaucoma, cataract, nanophthalmos and spherophakia in oculo-dento-digital syndrome
Author / Creator:Widder, Randolf A. ; Engels, Bert ; Severin, Maria ; Brunner, Richard ; Krieglstein, Günter K.
Publisher:Berlin: Springer
Journal title:Graefe's archive for clinical and experimental ophthalmology, 2003-02, Vol.241 (2), p.161-163
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ArticlesPeer ReviewedFull Text
Syndactyly/Brachyphalangy and Nail Dysplasias as Marker Lesions for Sclerosteosis
Author / Creator:Itin, Peter H. ; Keserü, Borbala ; Hauser, Vital
Publisher:Basel, Switzerland: Karger
Journal title:Dermatology (Basel), 2001-01, Vol.202 (3), p.259-260
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ArticlesPeer ReviewedFull Text
Changes in expression of the lysosomal membrane glycoprotein, LAMP-1 in interdigital regions during embryonic mouse limb development, in vivo and in vitro
Author / Creator:Stewart, Sharon ; Yi, Scott ; Kassabian, Garo ; Mayo, Mark ; Sank, Anthony ; Shuler, C
Publisher:New York: Springer Nature B.V
Journal title:Anatomy and Embryology, 2000-06, Vol.201 (6), p.483
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Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis

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The Greig cephalopolysyndactyly syndrome

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The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly

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Amniotic band syndrom at Bobo Dioulasso university teaching hospital (Burkina-Faso): about two cases

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Congenital cytomegalovirus infection and finger anomaly

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Cenani–Lenz syndrome-like limb anomaly with more severe involvement of left side

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An 8-month-old boy with cleft palate, microcephaly, developmental delay, and syndactyly. Smith-Lemili-Opitz syndrome

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Fanconi's anemia

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A case of angle-closure glaucoma, cataract, nanophthalmos and spherophakia in oculo-dento-digital syndrome

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Syndactyly/Brachyphalangy and Nail Dysplasias as Marker Lesions for Sclerosteosis

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Changes in expression of the lysosomal membrane glycoprotein, LAMP-1 in interdigital regions during embryonic mouse limb development, in vivo and in vitro

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