Adermatoglyphia
Adermatoglyphia is an extremely rare genetic disorder which causes a person to have no fingerprints. There are only four known extended families worldwide which are affected by this condition. Recently, the description of a case of a person from Switzerland lacking fingerprints as an isolated finding was published. The phenotype was mapped to chromosome 4q22. In the splice-site of a 3' exon of the gene for SMARCAD1-helicase, a point mutation was detected. It results in a shortened form of the skin-specific protein. The heterozygous mode of mutation suggests an autosomal dominant mode of inheritance.
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Adermatoglyphia
Adermatoglyphia is an extremely rare genetic disorder which causes a person to have no fingerprints. There are only four known extended families worldwide which are affected by this condition. Recently, the description of a case of a person from Switzerland lacking fingerprints as an isolated finding was published. The phenotype was mapped to chromosome 4q22. In the splice-site of a 3' exon of the gene for SMARCAD1-helicase, a point mutation was detected. It results in a shortened form of the skin-specific protein. The heterozygous mode of mutation suggests an autosomal dominant mode of inheritance.
has abstract
A adermatoglifia é um transtor ...... todos os indivíduos afetados.
@pt
Adermatoglyphia is an extremel ...... for instance Werner syndrome.
@en
Adermatoglyphia 是一个非常罕见的 遗传疾病 ，会导致一个人没有 指纹。 目前全世界只有四个已知的大家庭受此情况影响。
@zh
Als Adermatoglyphie bezeichnet ...... Diese Störung ist sehr selten.
@de
L'adermatoglifia è una anomali ...... dotto di ghiandole sudoripare.
@it
La adermatoglifia es el trasto ...... sta mutación en todo el mundo.
@es
OMIM id
Wikipage page ID
32,684,937
Wikipage revision ID
739,457,905
comment
A adermatoglifia é um transtor ...... todos os indivíduos afetados.
@pt
Adermatoglyphia is an extremel ...... dominant mode of inheritance.
@en
Adermatoglyphia 是一个非常罕见的 遗传疾病 ，会导致一个人没有 指纹。 目前全世界只有四个已知的大家庭受此情况影响。
@zh
Als Adermatoglyphie bezeichnet ...... Diese Störung ist sehr selten.
@de
L'adermatoglifia è una anomali ...... ttro famiglie affette da essa.
@it
La adermatoglifia es el trasto ...... e han documentado cuatro famil
@es
label
Adermatoglifia
@es
Adermatoglifia
@it
Adermatoglifia
@pt
Adermatoglyphia
@en
Adermatoglyphie
@de
皮纹病
@zh
wasDerivedFrom
isPrimaryTopicOf
name
Adermatoglyphia
@en