… Alain Pierre-Kahn Michel Zerah Dominique Renier Giuseppe Cinalli Christian Sainte-Rose
Arielle Lellouch-Tubiana Francis Brunelle Martine Le Merrer Yves Giudicelli Jacques Pichon …

ACHONDROPLASIA, the most common cause of chondrodysplasia in man (1 in 15,000 live
births), is a condition of unknown origin characterized by short-limbed dwarfism and …

… The Mtwist gene of Mus is expressed in subsets of mesodermal cells and is closely
related to the Xenopus X-twi and the Drosophila twist genes. Dev Bíol. 143, 363–373 (1991). …

Silver-Russell syndrome (SRS, OMIM 180860) is a congenital disorder characterized by
severe intrauterine and postnatal growth retardation, dysmorphic facial features and body …

Dyschondrosteosis 1 (DCS) is an autosomal dominant 2 form of mesomelic dysplasia with
deformity of the forearm (Madelung deformity; ref. 3). Based on the observation of XY …

… Such a ratio was previously published by Le Merrer et al. [1988] on 149 patients. In the
series of Shilitto and Matson [19681, the coronal synostosis affected females more often than …

From a series of 1,713 patients with craniosynostosis hospitalized between 1976 and 1996,
237 propositi with metopic synostosis were analyzed. The prevalence of metopic synostosis …

Hereditary multiple exostosis (EXT) is an autosomal dominant skeletal disorder
characterized by the formation of cartilage‐capped prominences developing from the juxta‐epiphyseal …

Genome editing has recently become a method of choice for basic research and functional
genomics, and holds great potential for molecular plant-breeding applications. The powerful …

SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility
of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) …