Xp microdeletion syndrome characterized by pathognomonic linear skin defects on the head and neck

scientific article published on January 1997

Xp microdeletion syndrome characterized by pathognomonic linear skin defects on the head and neck is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1111/J.1525-1470.1997.TB00422.X
P698PubMed publication ID9050760

P2093author name stringPulitzer DR
Moore CM
Kraus EW
Paulger BR
P2860cites workA gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motifQ24301723
MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndromeQ34346787
Congenital smooth muscle hamartoma. A report of six cases and a review of the literatureQ38640287
Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to Aicardi syndrome gene localizationQ41212150
Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome?Q43817274
The Pseudoautosomal Region of the Human Sex ChromosomesQ57339614
Exchange of terminal portions of X- and Y-chromosomal short arms in human XX malesQ58975559
P433issue1
P921main subjectmicrodeletion syndromeQ10329580
P304page(s)26-30
P577publication date1997-01-01
P1433published inPediatric DermatologyQ15753278
P1476titleXp microdeletion syndrome characterized by pathognomonic linear skin defects on the head and neck
P478volume14

Reverse relations

cites work (P2860)
Q35068028Chromosome abnormalities and the genetics of congenital corneal opacification
Q33614012Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome
Q52132068Corpus 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)].
Q36594323Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome
Q78427442Implications of FISH investigations in MIDAS syndrome associated with a 46,XX,t(X;Y) karyotype
Q52184288Reticulolinear aplasia cutis congenita of the face and neck: a distinctive cutaneous manifestation in several syndromes linked to Xp22.
Q53810387Twin 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)]