Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hypoparathyreoidismus-Retardierung-Dysmorphismus-Syndrom

Das Sanjad-Sakati-Syndrom ist eine autosomal rezessive Erkrankung. Sie ist charakterisiert durch kongenitalen Hypoparathyreoidismus mit Wachstumsstörungen. Neben einer geistigen Retardierung können auch epileptische Krämpfe auftreten.

Gliederung

Hypoparathyreoidismus
AP2S1
CASR
GCM2
GNA11
HDR-Syndrom
Hypoparathyreoidismus-Retardierung-Dysmorphismus-Syndrom
TBCE
Kenny-Caffey-Syndrom
PTH

Referenzen:

1.

Parvari R et al. (2002) Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

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2.

Kelly TE et al. (2000) Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43.

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3.

Kalam MA et al. (1992) Congenital hypoparathyroidism, seizure, extreme growth failure with developmental delay and dysmorphic features--another case of this new syndrome.

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4.

Courtens W et al. (2006) Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review.

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5.

Richardson RJ et al. (1990) Short stature, mental retardation, and hypoparathyroidism: a new syndrome.

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6.

Sanjad SA et al. (1991) A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.

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7.

Hershkovitz E et al. (1995) The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients.

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8.

Marsden D et al. (1994) Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies.

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9.

Parvari R et al. (1998) Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43.

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