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proLékaře.cz / Journals / Czech-Slovak Pediatrics / 2002 - 4

MASA syndrom

Czech version English version

: E. Seemanová
: Oddělení klinické genetiky Ústavu biologie a lékařské genetiky 2. LF UK, FN v Motole, Praha, vedoucí MUDr. M. Havlovicová
: Čes-slov Pediat 2002; (4): 176-178.
:

Je Popsána rodina s MA5A syndromem ve 4 generacích. Identifikace mutace na L1CAM umožňuje diagnostikovat heterozygotní nosiče nebo vyloučit riziko při reprodukci a detekovat prenatálně postižené hemizygotní mužské plody u heterozygotů. Addukce palců je signálem postižení.

Klíčová slova:
MA5A syndrom, mutace na L1CAM genu, mentální retardace, addukce palců

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Labels
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Treatment of Life Threatening Haemorrhage in Infant with Haemangiomatosis and with Manifestations of the Kassabach-Merrit Syndrome by Activated Recombinant Factor VII (rFVIIa)
Vomiting
Pathophysiological Mechanisms of Meconium Aspiration Syndrome
Alternative Approaches in the Treatment of Meconium Aspiration Syndrome
Article was published in

Czech-Slovak Pediatrics

2002 Issue 4
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