Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia Steel, Edward; Hurst, Jane A; Cullup, Thomas; More Steel, Edward; Hurst, Jane A; Cullup, Thomas; Calder, Alistair; Sivakumar, Branavan; Shah, Pratik; Wilson, Louise C Less Clinical Dysmorphology. 29(2):73-80, April 2020. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Congenital dermoid inclusion cyst over the anterior fontanel in Chinese children Cao, Lirong; Wang, Yizheng; Zhao, Linsheng; More Cao, Lirong; Wang, Yizheng; Zhao, Linsheng; Hu, Xiaoli; Cai, Chunquan Less Clinical Dysmorphology. 29(2):81-85, April 2020. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa Rehman, Atta Ur; Peter, Virginie G.; Quinodoz, Mathieu; More Rehman, Atta Ur; Peter, Virginie G.; Quinodoz, Mathieu; Dawood, Muhammad; Rivolta, Carlo Less Clinical Dysmorphology. 29(2):86-89, April 2020. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Xq25 microduplication syndrome: a further contribution to its definition. A case report and review of the literature Turchi, Giulia; Bernardo, Pia; Consales, Alessandro; More Turchi, Giulia; Bernardo, Pia; Consales, Alessandro; Bilo, Leonilda; Coppola, Antonietta Less Clinical Dysmorphology. 29(2):90-96, April 2020. Favorites PDF Get Content & Permissions Buy
Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion Pelle, Alessandra; Modena, Piergiorgio; Cavallini, Anna; More Pelle, Alessandra; Modena, Piergiorgio; Cavallini, Anna; Selicorni, Angelo Less Clinical Dysmorphology. 29(2):97-100, April 2020. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndrome Cianci, Paola; Pezzoli, Laura; Maitz, Silvia; More Cianci, Paola; Pezzoli, Laura; Maitz, Silvia; Agosti, Massimo; Iascone, Maria; Selicorni, Angelo Less Clinical Dysmorphology. 29(2):101-103, April 2020. Favorites PDF Get Content & Permissions Buy
Novel HOXA2 variant presenting with microtia and variable hearing impairment in four-generation pedigree Meddaugh, Hannah R.; Zambrano, Regina M. Meddaugh, Hannah R.; Zambrano, Regina M. Less Clinical Dysmorphology. 29(2):104-106, April 2020. Favorites PDF Get Content & Permissions Buy
A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1 Sumathipala, Dulika S.; Misceo, Doriana; Larsen, Selma Mujezinovic; More Sumathipala, Dulika S.; Misceo, Doriana; Larsen, Selma Mujezinovic; Barøy, Tuva; Gamage, Thilini H.; Frengen, Eirik; Strømme, Petter Less Clinical Dysmorphology. 29(2):107-110, April 2020. Favorites PDF Get Content & Permissions Buy
Mild presentation of the congenital variant Rett syndrome in a Pakistani male: expanding the phenotype of the forkhead box protein G1 spectrum Khan, Aleena Arij; Kirmani, Salman Khan, Aleena Arij; Kirmani, Salman Less Clinical Dysmorphology. 29(2):111-113, April 2020. Favorites PDF Get Content & Permissions Buy
A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype Andoni, Tala; Ellard, Sian; Kapadia, Jogesh; More Andoni, Tala; Ellard, Sian; Kapadia, Jogesh; Wakeling, Emma Less Clinical Dysmorphology. 29(2):114-117, April 2020. Favorites PDF Get Content & Permissions Buy
Absent digit in Russell-Silver syndrome: expanding the clinical spectrum of a well known syndrome Strong, Alanna; McDougall, Carey; Zackai, Elaine Strong, Alanna; McDougall, Carey; Zackai, Elaine Less Clinical Dysmorphology. 29(2):118-120, April 2020. Favorites PDF Get Content & Permissions Buy
Phenotypic variability in Muenke syndrome-observations from five Danish families: Erratum Less Clinical Dysmorphology. 29(2):121, April 2020. Favorites PDF Get Content & Permissions Free
