• A missense <em>GDF5</em> variant causes brachydactyly type A1 and multiple-synostoses syndrome 2
• A missense GDF5 variant causes brachydactyly type A1 and multiple-synostoses syndrome 2
• A novel variant of IHH in a Chinese family with brachydactyly type 1
• Altered microRNAs in C3H10T1/2 cells induced by p.E95K mutant IHH signaling
• Case Report: Brachydactyly Type A1 Induced by a Novel Variant of in-Frame Insertion in the <em>IHH</em> Gene
• Case Report: Brachydactyly Type A1 Induced by a Novel Variant of in-Frame Insertion in the IHH Gene
• Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants
• Clinical practice guidelines for brachydactyly type A1
• Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1
• Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia
• Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement
• GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations
• Homozygous <em>CHST11</em> mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly
• Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1
• IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy
• Mutation screening in candidate genes in four Chinese brachydactyly families
• p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation
• SAG therapy restores bone growth and reduces enchondroma incidence in a model of skeletal chondrodysplasias caused by Ihh deficiency
• Severe Form of Brachydactyly Type A1 in a Child with a c.298G &gt; A Mutation in <em>IHH</em> Gene
• Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene
• Short stature with brachydactyly caused by a novel mutation in the <em>IHH</em> gene and response to 4-year growth hormone therapy: a case report
• Suppression of apoptosis impairs phalangeal joint formation in the pathogenesis of brachydactyly type A1
• The third patient with Tsukahara-Azuno-Kaiji syndrome with type A1 brachydactyly, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss
• Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1
• Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects
• Whole-exome sequencing identifies a novel <em>IHH</em> insertion in an Ontario family with brachydactyly type A1
• Whole-exome sequencing identifies a novel IHH insertion in an Ontario family with brachydactyly type A1