Manuel Parrón-Pajares

发表

Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.

S. Mundlos, M. Holtgrewe, F. Santos-Simarro, 2020, American journal of medical genetics. Part A.

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

A. Offiah, C. Sánchez-Garre, E. Vallespín, 2018, Clinical endocrinology.

Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature

F. Santos-Simarro, Carmen Rodríguez-Jiménez, Á. Del Pozo, 2020, American journal of medical genetics. Part A.

Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy

A. Sousa, André M Travessa, K. Heath, 2020, American journal of medical genetics. Part A.

Clinical and molecular description of 16 families with heterozygous IHH variants.

Gabriela A. Vasques, C. de la Torre, E. Vallespín, 2020, The Journal of clinical endocrinology and metabolism.

Impact of muscle mass on the prognosis of liver transplantation for infants with biliary atresia

L. Hierro, J. Botella-Carretero, F. Hernández-Oliveros, 2023, Frontiers in Pediatrics.

Broadening the phenotypic spectrum of EVEN‐PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype

F. Santos-Simarro, R. Mena, J. Amiel, 2022, American journal of medical genetics. Part A.

First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction

K. Heath, Manuel Parrón-Pajares, Francisca Díaz-González, 2020, American journal of medical genetics. Part A.

Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases

F. Santos-Simarro, S. Sousa, K. Heath, 2023, Clinical genetics.

Case report: A third variant in the 5′ UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome

S. Twigg, F. Santos-Simarro, F. Carceller-Benito, 2023, Frontiers in Genetics.

Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants.

K. Heath, M. del Pino, V. Fano, 2021, European journal of medical genetics.

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

F. Santos-Simarro, J. Nevado, C. de la Torre, 2021, European journal of endocrinology.