A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics Nyboe, Daniel; Kreiborg, Sven; Darvann, Tron; More Nyboe, Daniel; Kreiborg, Sven; Darvann, Tron; Dunø, Morten; Nissen, Kamilla R.; Hove, Hanne B. Less Clinical Dysmorphology. 27(3):71-77, July 2018. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
Cantú syndrome, the changing phenotype: a report of the two oldest Dutch patients Roessler, Helen I.; Volker-Touw, Catharina M.L.; Terhal, Paulien A.; More Roessler, Helen I.; Volker-Touw, Catharina M.L.; Terhal, Paulien A.; van Haaften, Gijs; van Haelst, Mieke M. Less Clinical Dysmorphology. 27(3):78-83, July 2018. Favorites PDF Get Content & Permissions
Chinese patients with p.Ala172Phe-related Pfeiffer syndrome: a case and literature review Cheng, Shirley Sze Wing; Lo, Ivan Fai-Man; Luk, Ho-Ming Cheng, Shirley Sze Wing; Lo, Ivan Fai-Man; Luk, Ho-Ming Less Clinical Dysmorphology. 27(3):84-87, July 2018. Favorites PDF Get Content & Permissions
A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family Maroofian, Reza; Murdocca, Michela; Rezaei-Delui, Hossein; More Maroofian, Reza; Murdocca, Michela; Rezaei-Delui, Hossein; Nekooei, Amirhossein; Mojarad, Majid; Sangiuolo, Federica; Novelli, Giuseppe; Superti-Furga, Andrea; D’Apice, Maria Rosaria Less Clinical Dysmorphology. 27(3):88-90, July 2018. Favorites PDF Get Content & Permissions
A rare symptom of a very rare disease: a case report of a oculodentodigital dysplasia with lymphedema Gumus, Evren Gumus, Evren Less Clinical Dysmorphology. 27(3):91-93, July 2018. Favorites PDF Get Content & Permissions
HHID syndrome with plantar fat pads caused by a de novo ARID1B mutation Wafik, Mohamed; Kini, Usha Wafik, Mohamed; Kini, Usha Less Clinical Dysmorphology. 27(3):94-96, July 2018. Favorites PDF Get Content & Permissions
De-novo interstitial 2.33 Mb deletion in 8q24.3: new insights on a very rare partial monosomy syndrome Akbaroghli, Susan; Tonekaboni, Seyed H.; Kariminejad, Roxana; More Akbaroghli, Susan; Tonekaboni, Seyed H.; Kariminejad, Roxana; Liehr, Thomas; Coci, Emanuele G. Less Clinical Dysmorphology. 27(3):97-100, July 2018. Favorites PDF Get Content & Permissions
A case with isochromosome 18p and 2q13 deletion including the BUB1 gene Ayaz, Akif; Topak, Ali; Yalcintepe, Sinem; More Ayaz, Akif; Topak, Ali; Yalcintepe, Sinem; Celik, Tamer; Yararbas, Kanay; Eser, Metin; Yuregir, Ozge O. Less Clinical Dysmorphology. 27(3):101-104, July 2018. Favorites PDF Get Content & Permissions
Complex cranio-vertebral malformation: disruption sequence or iniencephaly? Pollazzon, Marzia; Rosato, Simonetta; Ivanovski, Ivan; More Pollazzon, Marzia; Rosato, Simonetta; Ivanovski, Ivan; Gelmini, Chiara; Bertani, Gianna; Pascarella, Rosario; Napoli, Manuela; Garavelli, Livia; Unger, Sheila; Superti-Furga, Andrea Less Clinical Dysmorphology. 27(3):105-108, July 2018. Favorites PDF Get Content & Permissions
A novel FBN2 mutation in a Turkish case with congenital contractural arachnodactyly Gürler, Abdullah I.; Yüksel, Zafer; Karaer, Kadri Gürler, Abdullah I.; Yüksel, Zafer; Karaer, Kadri Less Clinical Dysmorphology. 27(3):109-111, July 2018. Favorites PDF Get Content & Permissions
