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Your search keyword '"Descartes M"' showing total 4 results
Start Over Author "Descartes M" Journal clinical genetics
4 results on '"Descartes M"'

2. Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.

Author

Belnap N, Price-Smith A, Ramsey K, Leka K, Abraham A, Lieberman E, Hassett K, Potu S, Rudy N, Smith K, Mikhail FM, Monaghan KG, Hendershot A, Mourmans J, Descartes M, Huentelman MJ, Sills J, Rangasamy S, and Narayanan V

Abstract

Pedigree showing the autosomal dominant inheritance pattern of CSNK21 variants in families presenting with OCNDS. (A) Maternal inheritance to two daughters in Family 1, (B) Paternal inheritance to a daughter in Family 2, and (C) Maternal inheritance to two sons in Family 3., (© 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)

Published
2023
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4. Terminal deletion of the long arm of chromosome 4 in a mother and two sons.

Author

Descartes M, Keppler-Noreuil K, Knops J, Longshore JW, Finley WH, and Carroll AJ

Subjects
Abnormalities, Multiple pathology, Adult, Child, Preschool, Chromosome Aberrations pathology, Chromosome Disorders, Chromosomes, Human, Pair 4 ultrastructure, Face abnormalities, Female, Humans, Infant, Karyotyping, Male, Phenotype, Abnormalities, Multiple genetics, Chromosome Aberrations genetics, Chromosome Deletion, Chromosomes, Human, Pair 4 genetics, Intellectual Disability genetics
Abstract

Deletion of chromosome 4q31-->pter has been characterized as a distinctive malformation syndrome. We report a mother and two sons with deletion of the long arm (q) of chromosome 4 del(4)(q34.2).

Published
1996
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