• 17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype
• 17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)
• A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3
• A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation
• A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case
• A Rare Case Report of Split Hand and Foot Malformation
• Agenesis of tibia with bifid femur, congenital heart disease, and cleft lip with cleft palate or tracheoesophageal fistula: possible variants of Gollop-Wolfgang complex
• BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling
• Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1
• Identification of direct downstream targets of Dlx5 during early inner ear development
• Infant with midline thoracoabdominal schisis and limb defects
• Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex
• New pathogenic variant in <em>DLX5</em>: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly
• Reconstruction of bilateral tibial aplasia and split hand-foot syndrome in a father and daughter
• Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation
• SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably
• Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature
• Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families
• Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis
• The bony deficit in cleft lip and palate: review of procedures. Experience with the tibial periosteal graft
• The role of ultrasound and genetic counsel in prenatal diagnosis of split hand/foot malformation with long bone deficiency
• Unilateral cleft hand (lobster-claw deformity)