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Your search keyword '"Maria Descartes"' showing total 3 results
Start Over Author "Maria Descartes" Journal clinical genetics
3 results on '"Maria Descartes"'

1. Keratoconus in a patient with <scp> B3GALT6 </scp> ‐related disorder

Author

Kaitlin Callaway, Kirstin Smith, Natasha L. Rudy, Maria Descartes, Yulia V. Melenevsky, and Jack S. Parker

Subjects
medicine.medical_specialty, Keratoconus, business.industry, Ophthalmology, Genetics, medicine, Related disorder, medicine.disease, business, Genetics (clinical)
Published
2021

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

Author

John W. Longshore, Judith F. Knops, Maria Descartes, Kim M. Keppler-Noreuil, Andrew J. Carroll, and Wayne H. Finley

Subjects
Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Mild phenotype, Chromosome Disorders, Biology, Long arm, Intellectual Disability, Genetics, Humans, Abnormalities, Multiple, Genetics (clinical), Chromosome Aberrations, Chromosome, Infant, Karyotype, Molecular biology, nervous system diseases, Chromosome 4, Phenotype, Child, Preschool, Face, Karyotyping, Female, Chromosome Deletion, Chromosomes, Human, Pair 4
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

3. The fronto-ocular syndrome: second mother-daughter case

Author

Judith Franklin and Maria Descartes

Subjects
Pediatrics, medicine.medical_specialty, business.industry, Craniofacial abnormality, Genetics, medicine, business, medicine.disease, Infant newborn, Genetics (clinical), Mother daughter
Published
2004

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