BIOMAT Database Logo BIOMAT Database Logo

Somatic mosaicism and variable expression of Townes-Brocks syndrome. 2002

Koen Devriendt, and Jean-Pierre Fryns, and Francis Lemmens, and Jürgen Kohlhase, and Manuela Liebers

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D009030 Mosaicism The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D002658 Developmental Disabilities Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed) Child Development Deviations,Child Development Disorders,Child Development Disorders, Specific,Developmental Delay Disorders,Disabilities, Developmental,Development Disorders, Child,Child Development Deviation,Child Development Disorder,Development Deviation, Child,Development Deviations, Child,Development Disorder, Child,Developmental Delay Disorder,Developmental Disability,Deviation, Child Development,Disability, Developmental
D004431 Ear, External The outer part of the hearing system of the body. It includes the shell-like EAR AURICLE which collects sound, and the EXTERNAL EAR CANAL, the TYMPANIC MEMBRANE, and the EXTERNAL EAR CARTILAGES. External Ear,Outer Ear,Ear, Outer,Ears, External,Ears, Outer,External Ears,Outer Ears
D005124 Eye Abnormalities Congenital absence of or defects in structures of the eye; may also be hereditary. Abnormalities, Eye,Abnormality, Eye,Eye Abnormality
D006330 Heart Defects, Congenital Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life. Congenital Heart Disease,Heart Abnormalities,Abnormality, Heart,Congenital Heart Defect,Congenital Heart Defects,Defects, Congenital Heart,Heart Defect, Congenital,Heart, Malformation Of,Congenital Heart Diseases,Defect, Congenital Heart,Disease, Congenital Heart,Heart Abnormality,Heart Disease, Congenital,Malformation Of Heart,Malformation Of Hearts
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities

Related Publications

Koen Devriendt, and Jean-Pierre Fryns, and Francis Lemmens, and Jürgen Kohlhase, and Manuela Liebers
Townes-Brocks syndrome.
July 2004, Indian pediatrics,
Koen Devriendt, and Jean-Pierre Fryns, and Francis Lemmens, and Jürgen Kohlhase, and Manuela Liebers
Townes-Brocks syndrome.
February 1999, Journal of medical genetics,
Koen Devriendt, and Jean-Pierre Fryns, and Francis Lemmens, and Jürgen Kohlhase, and Manuela Liebers
Townes-Brocks syndrome.
December 1990, European journal of pediatrics,
Koen Devriendt, and Jean-Pierre Fryns, and Francis Lemmens, and Jürgen Kohlhase, and Manuela Liebers
[Townes-Brocks syndrome].
January 1996, Ryoikibetsu shokogun shirizu,
Koen Devriendt, and Jean-Pierre Fryns, and Francis Lemmens, and Jürgen Kohlhase, and Manuela Liebers
Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly.
February 2009, American journal of medical genetics. Part A,
Koen Devriendt, and Jean-Pierre Fryns, and Francis Lemmens, and Jürgen Kohlhase, and Manuela Liebers
The Townes-Brocks syndrome.
July 1990, Journal of medical genetics,
Koen Devriendt, and Jean-Pierre Fryns, and Francis Lemmens, and Jürgen Kohlhase, and Manuela Liebers
[The Townes-Brocks syndrome].
April 1996, Anales espanoles de pediatria,
Koen Devriendt, and Jean-Pierre Fryns, and Francis Lemmens, and Jürgen Kohlhase, and Manuela Liebers
Townes-Brocks syndrome with hypothyroidism.
February 2007, Indian pediatrics,
Koen Devriendt, and Jean-Pierre Fryns, and Francis Lemmens, and Jürgen Kohlhase, and Manuela Liebers
Two cases of Townes-Brocks syndrome.
January 1999, Genetic counseling (Geneva, Switzerland),
Koen Devriendt, and Jean-Pierre Fryns, and Francis Lemmens, and Jürgen Kohlhase, and Manuela Liebers
[Clinical heterogeneity of Townes-Brocks syndrome].
June 1995, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie,
Copied contents to your clipboard!