congenital absence of skin

نتایج جستجو برای: congenital absence of skin

تعداد نتایج: 21198095 فیلتر نتایج به سال:

Congenital absence of the lumbar spine.

Journal: :BMJ 1968

Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.

Journal: :Human molecular genetics 1998

S Cichon M Anker I R Vogt H Rohleder M Pützstück A Hillmer S A Farooq K S Al-Dhafri M Ahmad S Haque M Rietschel P Propping R Kruse M M Nöthen

Complete or partial congenital absence of hair (congenital alopecia) may occur isolated or with associated defects. The majority of families with isolated congenital alopecia has been reported to follow an autosomal recessive mode of inheritance (MIM 203655). We have previously mapped the gene for autosomal recessive congenital alopecia in a large inbred Pakistani family in which affected perso...

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Congenital absence of the lumbar spine.

Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.

CONGENITAL SKIN DEFECTS

CONGENITAL SKIN APLASIA

CONGENITAL ABSENCE OF THE GALL-BLADDER

Congenital Absence of Left Pectoral Muscles

Congenital Absence of the Corpus Callosum

CONGENITAL ABSENCE OF RADII, WITH OPERATION

Congenital Absence of Abductor Pollicis Brevis

Congenital Absence of the Portal Vein