Chassaing, Nicolas

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

Cluzeau, C., Hadj-Rabia, S., Jambou, M., Mansour, S., Guigue, P., Masmoudi, S., Bal, E., Chassaing, N., Vincent, M.-C., Viot, G., et al. (2011) · Human Mutation

dental development and anomaliesGenetic and rare skin diseases.

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Phenotypic spectrum associated with CASK loss-of-function mutations

Moog, U., Kutsche, K., Kortüm, F., Chilian, B., Bierhals, T., Apeshiotis, N., Balg, S., Chassaing, N., Coubes, C., Das, S., et al. (2011) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 135

Mutations inEDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia

Chassaing, N., Bourthoumieu, S., Cossee, M., Calvas, P., & Vincent, M.-C. (2006) · Human Mutation

dental development and anomaliesGenetic and rare skin diseases.

Cited by 103

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia: Expanding the Clinical Spectrum of STRA6 Mutations

Chassaing, N., Golzio, C., Odent, S., Lequeux, L., Vigouroux, A., Martinovic-Bouriel, J., Tiziano, F. D., Masini, L., Piro, F., Maragliano, G., et al. (2009) · Human Mutation

Ocular Disorders and TreatmentsRetinal Development and Disorders

Cited by 100