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It is caused by variants in genes encoding for enzymes involved in the proteoglycan biosynthesis or for a zinc transporter.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Presentation of cases<\/jats:title>\n                <jats:p>We report two brothers with a similar phenotype of short stature, joint hypermobility, distinct craniofacial features, developmental delay and severe hypermetropia indicative for a spondylodysplastic Ehlers-Danlos subtype. One also suffered from a recurrent pneumothorax. Gene panel analysis identified two compound heterozygous variants in the <jats:italic>B4GALT7<\/jats:italic> gene: c.641G\u2009&gt;\u2009A and c.723\u2009+\u20094A\u2009&gt;\u2009G. <jats:italic>B4GALT7<\/jats:italic> encodes for galactosyltransferase I, which is required for the initiation of glycosaminoglycan side chain synthesis of proteoglycans.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>This is a first full report on two cases with spondylodysplastic Ehlers-Danlos syndrome and the c.723\u2009+\u20094A\u2009&gt;\u2009G variant of <jats:italic>B4GALT7.<\/jats:italic> The recurrent pneumothoraces observed in one case expand the variable phenotype of the syndrome.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12887-021-02767-0","type":"journal-article","created":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T06:04:46Z","timestamp":1625033086000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency"],"prefix":"10.1186","volume":"21","author":[{"given":"Delia","family":"Lorenz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfram","family":"Kress","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ann-Kathrin","family":"Zaum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian P.","family":"Speer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9266-7149","authenticated-orcid":false,"given":"Helge","family":"Hebestreit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,6,30]]},"reference":[{"issue":"1","key":"2767_CR1","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1002\/ajmg.c.31552","volume":"175","author":"F Malfait","year":"2017","unstructured":"Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, et al. 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