• <em>PIK3CA</em>-Related Overgrowth Spectrum
• A case of focal facial dermal dysplasia type 4
• A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle
• A novel frameshift mutation in TWIST2 gene causing Setleis syndrome
• Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome)
• Autosomal dominant inheritance in Setleis syndrome
• Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III)
• Clinical and morphometrical changes in the skull in Gorlin-Goltz syndrome
• De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III)
• Evidence for genetic homogeneity of Setleis' syndrome and focal facial dermal dysplasia
• Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells
• Familial focal facial dermal dysplasia
• Familial focal facial dermal dysplasia
• Focal dermal hypoplasia syndrome with incomplete transverse facial cleft and tumour of the lips
• Focal facial dermal dysplasia or aplasia cutis congenita: a case with a hair collar
• Focal Facial Dermal Dysplasia Type 4
• Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients
• Focal facial dermal dysplasia with a hair collar
• Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1
• Focal facial dermal dysplasia: bitemporal lesions resembling aplasia cutis congenita
• Focal facial dermal dysplasia: report of a case with associated cardiac defects
• Focal facial dermal dysplasia: two familial cases
• Focal facial dermal dysplasias type III: Two families with Setleis syndrome in China
• Focal preauricular dermal dysplasia in a newborn
• Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution
• Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management
• Goltz syndrome with facial clefts. Etiopathogenetic considerations. Apropos of a new case
• Homozygous nonsense mutations in TWIST2 cause Setleis syndrome
• Mechanisms of Regulation of the <em>CHRDL1</em> Gene by the TWIST2 and ADD1/SREBP1c Transcription Factors
• Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin
• Oral phenotype and variation in focal dermal hypoplasia
• Preliminary report on familial focal facial dermal dysplasia
• Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance
• Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification
• Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation
• Setleis syndrome: genetic and clinical findings in a new case with epilepsy
• The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity
• The focal facial dermal dysplasias: report of a kindred and a proposed new classification
• The TWIST2 mutation causes Setleis syndrome: a rare clinical case report
• Treatment of otorhinolaryngological manifestations of three rare genetic syndromes: Branchio-Oculo-Facial (BOF), Ectrodactyly Ectodermal dysplasia Clefting (EEC) and focal dermal hypoplasia (Goltz syndrome)
• Twist1- and Twist2-haploinsufficiency results in reduced bone formation
• X-chromosome inactivation: role in skin disease expression