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Article

Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement.

American journal of medical genetics - 2 Jul 1999

Diaz G A, Gelb B D, Ali F, Sakati N, Sanjad S, Meyer B F, Kambouris M

Abstract excerpt

The Sanjad-Sakati syndrome (SSS; MIM241410), an autosomal recessive trait characterized by congenital hypoparathyroidism, growth and mental retardation, seizures, and a characteristic physiognomy, was recently linked to chromosome area 1q42-q43. SSS resembles the autosomal recessive form of Kenny-Caffey syndrome (KCS; MIM244460), with similar manifestations but lacking osteosclerosis. Since KCS was recently...

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Source

Identifiers

PMID: 10377012
DOI: 10.1002/(sici)1096-8628(19990702)85:1<48::aid-ajmg9>3.0.co;2-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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