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Familial infantile renal tubular acidosis and congenital nerve deafness: an autosomal recessive syndrome. 1973

T Cohen, and A Brand-Auraban, and C Karshai, and A Jacob, and I Gay, and J Tsitsianov, and T Shapiro, and S Jatziv, and A Ashkenazi

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
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
D008607 Intellectual Disability Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D003241 Consanguinity The magnitude of INBREEDING in humans. Inbreeding, Human,Consanguineous Marriage,Consanguinous Mating,Consanguineous Marriages,Consanguinities,Consanguinous Matings,Human Inbreeding,Human Inbreedings,Inbreedings, Human,Marriage, Consanguineous,Marriages, Consanguineous,Mating, Consanguinous,Matings, Consanguinous
D003638 Deafness A general term for the complete loss of the ability to hear from both ears. Deafness Permanent,Hearing Loss Permanent,Prelingual Deafness,Deaf Mutism,Deaf-Mutism,Deafness, Acquired,Hearing Loss, Complete,Hearing Loss, Extreme,Acquired Deafness,Complete Hearing Loss,Deafness, Prelingual,Extreme Hearing Loss,Permanent, Deafness,Permanent, Hearing Loss,Permanents, Deafness

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T Cohen, and A Brand-Auraban, and C Karshai, and A Jacob, and I Gay, and J Tsitsianov, and T Shapiro, and S Jatziv, and A Ashkenazi
Renal tubular acidosis and sensorineural deafness: an autosomal recessive syndrome.
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Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.
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Evidence for autosomal recessive inheritance of the syndrome of renal tubular acidosis with deafness.
March 1971, Birth defects original article series,
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Siblings with congenital renal tubular acidosis and nerve deafness.
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Renal tubular acidosis and nerve deafness.
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Renal tubular acidosis with nerve deafness.
October 1987, The Ulster medical journal,
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The syndrome of renal tubular acidosis with nerve deafness.
January 1976, Acta paediatrica Scandinavica,
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[Distal renal tubular acidosis with nerve deafness].
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Renal tubular acidosis and deafness.
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Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis.
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