Faciogenital (Faciodigitogenital) Dysplasia

Author:

Chen Harold

Publisher

Springer New York

Reference48 articles.

1. Aarskog, D. (1970). A familial syndrome of short stature associated with facial dysplasia and genital anomalies. Journal of Pediatrics, 77, 856–861.

2. Al-Semari, A., Wakil, S. M., Al-Muhaizea, M. A., et al. (2013). Novel FGD1 mutation underlying Aarskog–Scott syndrome with myopathy and distal arthropathy. Clinical Dysmorphology, 22, 13–17.

3. Archibald, R. M., & German, J. (1975). The Aarskog-Scott syndrome in four brothers. Birth Defects Original Article Series, 11(2), 25–29.

4. Aten, E., Sun, Y., Almomani, R., et al. (2013). Exome sequencing identifies a branch point variant in Aarskog–Scott syndrome. Human Mutation, 34, 430–434.

5. Bartsocas, C. S., & Dimitriou, J. K. (1975). Aarskog-Scott syndrome of unusual facies, joint hypermobility, genital anomaly and short stature. Birth Defects Original Article Series, 11(2), 453–455.

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