scholarly article | Q13442814 |
P356 | DOI | 10.1111/J.1525-1470.1997.TB00422.X |
P698 | PubMed publication ID | 9050760 |
P2093 | author name string | Pulitzer DR | |
Moore CM | |||
Kraus EW | |||
Paulger BR | |||
P2860 | cites work | A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif | Q24301723 |
MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome | Q34346787 | ||
Congenital smooth muscle hamartoma. A report of six cases and a review of the literature | Q38640287 | ||
Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to Aicardi syndrome gene localization | Q41212150 | ||
Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome? | Q43817274 | ||
The Pseudoautosomal Region of the Human Sex Chromosomes | Q57339614 | ||
Exchange of terminal portions of X- and Y-chromosomal short arms in human XX males | Q58975559 | ||
P433 | issue | 1 | |
P921 | main subject | microdeletion syndrome | Q10329580 |
P304 | page(s) | 26-30 | |
P577 | publication date | 1997-01-01 | |
P1433 | published in | Pediatric Dermatology | Q15753278 |
P1476 | title | Xp microdeletion syndrome characterized by pathognomonic linear skin defects on the head and neck | |
P478 | volume | 14 |
Q35068028 | Chromosome abnormalities and the genetics of congenital corneal opacification |
Q33614012 | Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome |
Q52132068 | Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;;14) (pter;q11.2)]. |
Q36594323 | Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome |
Q78427442 | Implications of FISH investigations in MIDAS syndrome associated with a 46,XX,t(X;Y) karyotype |
Q52184288 | Reticulolinear aplasia cutis congenita of the face and neck: a distinctive cutaneous manifestation in several syndromes linked to Xp22. |
Q53810387 | Twin brothers with MIDAS syndrome and XX karyotype |
Q73581175 | [Cutaneous aplasia, non compaction of the left ventricle and severe cardiac arrhythmia: a new case of MLS syndrome (microphtalmia with linear skin defects)] |