Stüve–Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway Van De Maele, Karolien; Smulders, Charlotte; Ecury-Goossen, Ginette; More Van De Maele, Karolien; Smulders, Charlotte; Ecury-Goossen, Ginette; Rosina-Angelista, Irsa; Redeker, Egbert; van Haelst, Mieke Less Clinical Dysmorphology. 28(2):57-62, April 2019. Abstract Abstract Favorites PDF Get Content & Permissions Abstract: Buy
Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family Tekedereli, Ibrahim; Demiral, Emine; Gokce, Ismail K.; More Tekedereli, Ibrahim; Demiral, Emine; Gokce, Ismail K.; Esener, Zeynep; Camtosun, Emine; Akinci, Aysehan Less Clinical Dysmorphology. 28(2):63-65, April 2019. Abstract Abstract Favorites PDF Get Content & Permissions Abstract: Buy
A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature Riccardi, Florence; Urquhart, Jill; McCullagh, Gary; More Riccardi, Florence; Urquhart, Jill; McCullagh, Gary; Lawrence, Peter; Douzgou, Sofia Less Clinical Dysmorphology. 28(2):66-70, April 2019. Favorites PDF Get Content & Permissions Buy SDC
Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation Bend, Eric G.; Louie, Raymond J.; Stevenson, Roger E. Bend, Eric G.; Louie, Raymond J.; Stevenson, Roger E. Less Clinical Dysmorphology. 28(2):71-73, April 2019. Favorites PDF Get Content & Permissions Buy
A rare mutation of retinoic acid receptor-β associated with lethal neonatal Matthew-Wood syndrome Nobile, Stefano; Pisaneschi, Elisa; Novelli, Antonio; More Nobile, Stefano; Pisaneschi, Elisa; Novelli, Antonio; Carnielli, Virgilio P. Less Clinical Dysmorphology. 28(2):74-77, April 2019. Favorites PDF Get Content & Permissions Buy
Apert syndrome with congenital diaphragmatic hernia: another case report and review of the literature Kaur, Ravneet; Mishra, Puneeta; Kumar, Surjeet; More Kaur, Ravneet; Mishra, Puneeta; Kumar, Surjeet; Sankar, Mari J.; Kabra, Madhulika; Gupta, Neerja Less Clinical Dysmorphology. 28(2):78-80, April 2019. Favorites PDF Get Content & Permissions Buy
LAMM syndrome: two new patients with a novel mutation in FGF3 gene and additional clinical findings Basdemirci, Muserref; Zamani, Ayse G.; Sener, Sevgi; More Basdemirci, Muserref; Zamani, Ayse G.; Sener, Sevgi; Tassoker, Melek; Cetmili, Hayriye; Zamani, Adil; Aydogdu, Demet; Basdemirci, Ali; Yildirim, Mahmut S. Less Clinical Dysmorphology. 28(2):81-85, April 2019. Favorites PDF Get Content & Permissions Buy
Meier-Gorlin syndrome: an additional case report in an adult woman Belaid, Rym; Zouaoui, Hsan; Yazidi, Meriem; More Belaid, Rym; Zouaoui, Hsan; Yazidi, Meriem; Oueslati, Ibtissem; Grira, Wafa; Chaker, Fatma; Chihaoui, Melika Less Clinical Dysmorphology. 28(2):86-90, April 2019. Favorites PDF Get Content & Permissions Buy
Novel mutation in MASP1 gene in a new family with 3MC syndrome Basdemirci, Muserref; Sen, Askin; Ceylaner, Serdar Basdemirci, Muserref; Sen, Askin; Ceylaner, Serdar Less Clinical Dysmorphology. 28(2):91-93, April 2019. Favorites PDF Get Content & Permissions Buy
Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in DEAF1 gene Sharma, Pankaj; Gambhir, Poonam S.; Phadke, Shubha R.; More Sharma, Pankaj; Gambhir, Poonam S.; Phadke, Shubha R.; Mandal, Kausik Less Clinical Dysmorphology. 28(2):94-97, April 2019. Favorites PDF Get Content & Permissions Buy
De novo Xq21.31–q21.32 duplication in intellectual disability: a new report Cianci, Paola; Agosti, Massimo; Modena, Piergiorgio; More Cianci, Paola; Agosti, Massimo; Modena, Piergiorgio; Selicorni, Angelo Less Clinical Dysmorphology. 28(2):98-100, April 2019. Favorites PDF Get Content & Permissions Buy
